| 9850446 | CV181541 | single nucleotide variant | NM_003091.4(SNRPB):c.-72C>A | Cerebro-costo-mandibular syndrome [RCV000162253] | pathogenic | 20 | 2470762 | 2470762 | Human | 1 | name |
| 405236197 | CV3040935 | single nucleotide variant | NM_003091.4(SNRPB):c.4-7C>T | not provided [RCV003712303] | likely benign | 20 | 2467765 | 2467765 | Human | | name |
| 150445494 | CV1248312 | single nucleotide variant | NM_003091.4(SNRPB):c.4-68T>G | not provided [RCV001667018] | benign | 20 | 2467826 | 2467826 | Human | | name |
| 151827980 | CV1395821 | single nucleotide variant | NM_003091.4(SNRPB):c.*156C>T | not provided [RCV002050436] | uncertain significance | 20 | 2461773 | 2461773 | Human | | name |
| 152175527 | CV1526861 | single nucleotide variant | NM_003091.4(SNRPB):c.*149G>A | not provided [RCV002163662] | benign | 20 | 2461780 | 2461780 | Human | | name |
| 156416784 | CV1898145 | single nucleotide variant | NM_003091.4(SNRPB):c.*148C>T | Inborn genetic diseases [RCV003269468]|not provided [RCV002610359] | likely benign|uncertain significance | 20 | 2461781 | 2461781 | Human | 1 | name |
| 156179264 | CV1953348 | single nucleotide variant | NM_003091.4(SNRPB):c.*144C>T | not provided [RCV002574063] | uncertain significance | 20 | 2461785 | 2461785 | Human | | name |
| 155901364 | CV2043597 | single nucleotide variant | NM_003091.4(SNRPB):c.*162C>T | not provided [RCV002770990] | uncertain significance | 20 | 2461767 | 2461767 | Human | | name |
| 155968399 | CV2082915 | duplication | NM_003091.4(SNRPB):c.*151dup | not provided [RCV002881367] | uncertain significance | 20 | 2461777 | 2461778 | Human | | name |
| 156095529 | CV2167335 | single nucleotide variant | NM_003091.4(SNRPB):c.*148C>G | not provided [RCV003038376] | uncertain significance | 20 | 2461781 | 2461781 | Human | | name |
| 156093341 | CV2256745 | single nucleotide variant | NM_003091.4(SNRPB):c.*144C>A | Inborn genetic diseases [RCV002798651]|not provided [RCV003777781] | uncertain significance | 20 | 2461785 | 2461785 | Human | 1 | name |
| 405237627 | CV3165344 | single nucleotide variant | NM_003091.4(SNRPB):c.3+18T>C | not provided [RCV003866546] | likely benign | 20 | 2470670 | 2470670 | Human | | name |
| 408384612 | CV3504411 | single nucleotide variant | NM_003091.4(SNRPB):c.*137G>T | SNRPB-related disorder [RCV004731954] | uncertain significance | 20 | 2461792 | 2461792 | Human | | name , trait , alternate_id |
| 597947181 | CV3758942 | single nucleotide variant | NM_003091.4(SNRPB):c.*141C>T | not provided [RCV005078738] | uncertain significance | 20 | 2461788 | 2461788 | Human | | name |
| 597839954 | CV3825231 | single nucleotide variant | NM_003091.4(SNRPB):c.3+15G>C | not provided [RCV005171914] | likely benign | 20 | 2470673 | 2470673 | Human | | name |
| 13474153 | CV446211 | single nucleotide variant | NM_003091.4(SNRPB):c.*139C>T | not provided [RCV005056127]|not specified [RCV000519566] | uncertain significance | 20 | 2461790 | 2461790 | Human | | name |
| 15197377 | CV728577 | single nucleotide variant | NM_003091.4(SNRPB):c.*157G>A | not provided [RCV000890040] | likely benign | 20 | 2461772 | 2461772 | Human | | name |
| 150476735 | CV1263690 | single nucleotide variant | NM_003091.4(SNRPB):c.4-183C>A | not provided [RCV001685213] | benign | 20 | 2467941 | 2467941 | Human | | name |
| 152041672 | CV1537782 | single nucleotide variant | NM_003091.4(SNRPB):c.155+7A>C | not provided [RCV002165771] | likely benign | 20 | 2467600 | 2467600 | Human | | name |
| 156064639 | CV1925839 | single nucleotide variant | NM_003091.4(SNRPB):c.559+8G>T | not provided [RCV002621060] | likely benign | 20 | 2463081 | 2463081 | Human | | name |
| 156447315 | CV1944961 | single nucleotide variant | NM_003091.4(SNRPB):c.560-4G>A | not provided [RCV003118842] | benign | 20 | 2462765 | 2462765 | Human | | name |
| 156446537 | CV1947883 | single nucleotide variant | NM_003091.4(SNRPB):c.560-3C>T | not provided [RCV003118046] | uncertain significance | 20 | 2462764 | 2462764 | Human | | name |
| 405193488 | CV2975093 | single nucleotide variant | NM_003091.4(SNRPB):c.421-6T>C | not provided [RCV003677423] | likely benign | 20 | 2463233 | 2463233 | Human | | name |
| 405063672 | CV3020681 | single nucleotide variant | NM_003091.4(SNRPB):c.685+4A>G | not provided [RCV003697873] | uncertain significance | 20 | 2462632 | 2462632 | Human | | name |
| 405854896 | CV3395022 | duplication | NM_003091.4(SNRPB):c.267+4dup | Cerebro-costo-mandibular syndrome [RCV004555164] | likely pathogenic | 20 | 2465703 | 2465704 | Human | 1 | name |
| 407426712 | CV3411512 | single nucleotide variant | NM_003091.4(SNRPB):c.267+5G>A | not provided [RCV004590690] | uncertain significance | 20 | 2465703 | 2465703 | Human | | name |
| 40814719 | CV969759 | single nucleotide variant | NM_003091.4(SNRPB):c.560-1G>T | Isolated Pierre-Robin syndrome [RCV001261285] | likely pathogenic | 20 | 2462762 | 2462762 | Human | 4 | name |
| 150512158 | CV1228438 | single nucleotide variant | NM_003091.4(SNRPB):c.560-34C>T | not provided [RCV001637570] | benign | 20 | 2462795 | 2462795 | Human | | name |
| 152033468 | CV1572837 | single nucleotide variant | NM_003091.4(SNRPB):c.420+20G>T | not provided [RCV002187094] | likely benign | 20 | 2463727 | 2463727 | Human | | name |
| 152032267 | CV1629360 | single nucleotide variant | NM_003091.4(SNRPB):c.560-19T>C | not provided [RCV002106329] | likely benign | 20 | 2462780 | 2462780 | Human | | name |
| 156129298 | CV1966136 | single nucleotide variant | NM_003091.4(SNRPB):c.155+16T>G | not provided [RCV002593433] | likely benign | 20 | 2467591 | 2467591 | Human | | name |
| 155913305 | CV2065916 | single nucleotide variant | NM_003091.4(SNRPB):c.267+10A>C | not provided [RCV002837871] | likely benign | 20 | 2465698 | 2465698 | Human | | name |
| 156189741 | CV2066328 | single nucleotide variant | NM_003091.4(SNRPB):c.685+17G>A | not provided [RCV002828572] | likely benign | 20 | 2462619 | 2462619 | Human | | name |
| 156308733 | CV2076126 | single nucleotide variant | NM_003091.4(SNRPB):c.155+11G>T | not provided [RCV002857538] | likely benign | 20 | 2467596 | 2467596 | Human | | name |
| 405011786 | CV3128134 | single nucleotide variant | NM_003091.4(SNRPB):c.420+13G>T | not provided [RCV003829014] | likely benign | 20 | 2463734 | 2463734 | Human | | name |
| 405213599 | CV3128278 | single nucleotide variant | NM_003091.4(SNRPB):c.155+13C>T | not provided [RCV003823702] | likely benign | 20 | 2467594 | 2467594 | Human | | name |
| 404995029 | CV3132632 | single nucleotide variant | NM_003091.4(SNRPB):c.559+10C>G | not provided [RCV003827571] | likely benign | 20 | 2463079 | 2463079 | Human | | name |
| 405144472 | CV3155787 | duplication | NM_003091.4(SNRPB):c.156-15dup | not provided [RCV003855829] | likely benign | 20 | 2465833 | 2465834 | Human | | name |
| 405085881 | CV3167354 | single nucleotide variant | NM_003091.4(SNRPB):c.559+12A>G | not provided [RCV003851935] | likely benign | 20 | 2463077 | 2463077 | Human | | name |
| 597936984 | CV3807751 | single nucleotide variant | NM_003091.4(SNRPB):c.560-18G>C | not provided [RCV005158130] | likely benign | 20 | 2462779 | 2462779 | Human | | name |
| 597933950 | CV3810827 | single nucleotide variant | NM_003091.4(SNRPB):c.268-13G>A | not provided [RCV005157536] | likely benign | 20 | 2463912 | 2463912 | Human | | name |
| 150477338 | CV1240016 | single nucleotide variant | NM_003091.4(SNRPB):c.685+166C>T | not provided [RCV001652194] | benign | 20 | 2462470 | 2462470 | Human | | name |
| 150472024 | CV1259228 | single nucleotide variant | NM_003091.4(SNRPB):c.268-199G>A | not provided [RCV001684474] | benign | 20 | 2464098 | 2464098 | Human | | name |
| 150465387 | CV1277231 | single nucleotide variant | NM_003091.4(SNRPB):c.155+245C>T | not provided [RCV001710525] | benign | 20 | 2467362 | 2467362 | Human | | name |
| 9850442 | CV181537 | single nucleotide variant | NM_003091.4(SNRPB):c.155+301G>C | Cerebro-costo-mandibular syndrome [RCV000162249]|SNRPB-related disorder [RCV003416031]|not provided [RCV004721279] | pathogenic|likely pathogenic | 20 | 2467306 | 2467306 | Human | 1 | name , trait , alternate_id |
| 9850443 | CV181538 | single nucleotide variant | NM_003091.4(SNRPB):c.155+302G>C | Cerebro-costo-mandibular syndrome [RCV000162250] | pathogenic | 20 | 2467305 | 2467305 | Human | 1 | name |
| 9850444 | CV181539 | single nucleotide variant | NM_003091.4(SNRPB):c.155+302G>T | Cerebro-costo-mandibular syndrome [RCV000162251] | pathogenic|not provided | 20 | 2467305 | 2467305 | Human | 1 | name |
| 9850445 | CV181540 | single nucleotide variant | NM_003091.4(SNRPB):c.155+406C>A | Cerebro-costo-mandibular syndrome [RCV000162252] | pathogenic | 20 | 2467201 | 2467201 | Human | 1 | name |
| 156140934 | CV2177879 | deletion | NM_003091.4(SNRPB):c.4-11_4-5del | not provided [RCV003040033] | likely benign | 20 | 2467763 | 2467769 | Human | | name |
| 150500815 | CV1213230 | deletion | NM_003091.4(SNRPB):c.4-171_4-170del | not provided [RCV001594642] | benign | 20 | 2467928 | 2467929 | Human | | name |
| 152106181 | CV1591628 | duplication | NM_003091.4(SNRPB):c.267+2_267+6dup | not provided [RCV002214841] | likely benign | 20 | 2465701 | 2465702 | Human | | name |
| 151792437 | CV1351097 | single nucleotide variant | NM_003091.4(SNRPB):c.5C>T (p.Thr2Met) | not provided [RCV001990204] | uncertain significance | 20 | 2467757 | 2467757 | Human | | name |
| 152067145 | CV1579140 | single nucleotide variant | NM_003091.4(SNRPB):c.54G>A (p.Arg18=) | not provided [RCV002074604] | likely benign | 20 | 2467708 | 2467708 | Human | | name |
| 156435762 | CV1937124 | single nucleotide variant | NM_003091.4(SNRPB):c.52A>C (p.Arg18=) | not provided [RCV003104993] | likely benign | 20 | 2467710 | 2467710 | Human | | name |
| 156407726 | CV1957589 | microsatellite | NM_003091.4(SNRPB):c.421-15_421-13del | not provided [RCV002586312] | benign | 20 | 2463240 | 2463242 | Human | | name |
| 156073913 | CV1959587 | microsatellite | NM_003091.4(SNRPB):c.421-19_421-16del | not provided [RCV002569692] | likely benign | 20 | 2463243 | 2463246 | Human | | name |
| 156110712 | CV2161281 | deletion | NM_003091.4(SNRPB):c.421-20_421-19del | not provided [RCV003038932] | likely benign | 20 | 2463246 | 2463247 | Human | | name |
| 405260524 | CV3204115 | single nucleotide variant | NM_003091.4(SNRPB):c.30G>A (p.Leu10=) | SNRPB-related disorder [RCV003943985]|not provided [RCV004703351] | likely benign | 20 | 2467732 | 2467732 | Human | 1 | name , trait , alternate_id |
| 151720195 | CV1491475 | single nucleotide variant | NM_003091.4(SNRPB):c.214C>T (p.Leu72=) | not provided [RCV002003548] | likely benign | 20 | 2465761 | 2465761 | Human | | name |
| 152134306 | CV1613358 | single nucleotide variant | NM_003091.4(SNRPB):c.252A>G (p.Gly84=) | not provided [RCV002155944] | likely benign | 20 | 2465723 | 2465723 | Human | | name |
| 156099146 | CV1920619 | single nucleotide variant | NM_003091.4(SNRPB):c.267T>C (p.Asp89=) | not provided [RCV002592209] | uncertain significance | 20 | 2465708 | 2465708 | Human | | name |
| 156386623 | CV1979803 | single nucleotide variant | NM_003091.4(SNRPB):c.126C>G (p.Leu42=) | not provided [RCV002604335] | likely benign | 20 | 2467636 | 2467636 | Human | | name |
| 156102476 | CV1991995 | single nucleotide variant | NM_003091.4(SNRPB):c.108G>A (p.Lys36=) | not provided [RCV002622266] | likely benign | 20 | 2467654 | 2467654 | Human | | name |
| 405200909 | CV2877062 | single nucleotide variant | NM_003091.4(SNRPB):c.171A>G (p.Lys57=) | not provided [RCV003551271] | likely benign | 20 | 2465804 | 2465804 | Human | | name |
| 405241212 | CV3061060 | single nucleotide variant | NM_003091.4(SNRPB):c.193C>A (p.Arg65=) | not provided [RCV003737300] | likely benign | 20 | 2465782 | 2465782 | Human | | name |
| 404980083 | CV3183305 | single nucleotide variant | NM_003091.4(SNRPB):c.123C>T (p.Ile41=) | not provided [RCV003880328] | likely benign | 20 | 2467639 | 2467639 | Human | | name |
| 597891425 | CV3749379 | single nucleotide variant | NM_003091.4(SNRPB):c.23A>G (p.Lys8Arg) | not provided [RCV005071163] | uncertain significance | 20 | 2467739 | 2467739 | Human | | name |
| 597916236 | CV3814668 | single nucleotide variant | NM_003091.4(SNRPB):c.282A>G (p.Arg94=) | not provided [RCV005154983] | likely benign | 20 | 2463885 | 2463885 | Human | | name |
| 15201849 | CV705414 | single nucleotide variant | NM_003091.4(SNRPB):c.252A>T (p.Gly84=) | SNRPB-related disorder [RCV003903308]|not provided [RCV000957746] | benign | 20 | 2465723 | 2465723 | Human | 1 | name , trait , alternate_id |
| 151856744 | CV1410299 | single nucleotide variant | NM_003091.4(SNRPB):c.51G>A (p.Met17Ile) | not provided [RCV001996630] | uncertain significance | 20 | 2467711 | 2467711 | Human | | name |
| 151853445 | CV1459209 | single nucleotide variant | NM_003091.4(SNRPB):c.654G>A (p.Pro218=) | not provided [RCV002016892] | likely benign|uncertain significance | 20 | 2462667 | 2462667 | Human | | name |
| 152073774 | CV1633390 | single nucleotide variant | NM_003091.4(SNRPB):c.486C>T (p.Ala162=) | not provided [RCV002129942] | likely benign | 20 | 2463162 | 2463162 | Human | | name |
| 156369975 | CV2007655 | single nucleotide variant | NM_003091.4(SNRPB):c.423G>A (p.Val141=) | not provided [RCV002676827] | likely benign | 20 | 2463225 | 2463225 | Human | | name |
| 156096028 | CV2010631 | single nucleotide variant | NM_003091.4(SNRPB):c.498C>A (p.Thr166=) | not provided [RCV002695121] | likely benign | 20 | 2463150 | 2463150 | Human | | name |
| 155913954 | CV2021883 | single nucleotide variant | NM_003091.4(SNRPB):c.363C>A (p.Pro121=) | not provided [RCV002727007] | likely benign | 20 | 2463804 | 2463804 | Human | | name |
| 156245136 | CV2149064 | single nucleotide variant | NM_003091.4(SNRPB):c.570C>T (p.Gly190=) | not provided [RCV003008242] | likely benign | 20 | 2462751 | 2462751 | Human | | name |
| 156332066 | CV2181150 | single nucleotide variant | NM_003091.4(SNRPB):c.468T>C (p.Ala156=) | not provided [RCV003047278] | likely benign | 20 | 2463180 | 2463180 | Human | | name |
| 156344288 | CV2186184 | single nucleotide variant | NM_003091.4(SNRPB):c.549A>G (p.Ala183=) | not provided [RCV003047925] | likely benign | 20 | 2463099 | 2463099 | Human | | name |
| 329847400 | CV2524236 | single nucleotide variant | NM_003091.4(SNRPB):c.73C>T (p.Arg25Trp) | not provided [RCV003227128] | likely pathogenic | 20 | 2467689 | 2467689 | Human | | name |
| 402475631 | CV2916777 | single nucleotide variant | NM_003091.4(SNRPB):c.651T>C (p.Pro217=) | not provided [RCV003571376] | likely benign | 20 | 2462670 | 2462670 | Human | | name |
| 405252716 | CV3047437 | single nucleotide variant | NM_003091.4(SNRPB):c.303C>T (p.Ala101=) | not provided [RCV003722303] | likely benign | 20 | 2463864 | 2463864 | Human | | name |
| 405245471 | CV3054989 | single nucleotide variant | NM_003091.4(SNRPB):c.76A>G (p.Ile26Val) | not provided [RCV003720226] | uncertain significance | 20 | 2467686 | 2467686 | Human | | name |
| 405237040 | CV3076577 | single nucleotide variant | NM_003091.4(SNRPB):c.405C>T (p.Gly135=) | not provided [RCV003735987] | likely benign | 20 | 2463762 | 2463762 | Human | | name |
| 405103459 | CV3116261 | single nucleotide variant | NM_003091.4(SNRPB):c.456C>T (p.Ala152=) | not provided [RCV003811977] | likely benign | 20 | 2463192 | 2463192 | Human | | name |
| 597964819 | CV3751019 | single nucleotide variant | NM_003091.4(SNRPB):c.447T>C (p.Thr149=) | not provided [RCV005082581] | likely benign | 20 | 2463201 | 2463201 | Human | | name |
| 597891104 | CV3784945 | single nucleotide variant | NM_003091.4(SNRPB):c.606A>T (p.Pro202=) | not provided [RCV005125724] | likely benign | 20 | 2462715 | 2462715 | Human | | name |
| 597956537 | CV3792443 | single nucleotide variant | NM_003091.4(SNRPB):c.471C>T (p.Ala157=) | not provided [RCV005137330] | likely benign | 20 | 2463177 | 2463177 | Human | | name |
| 597967129 | CV3855732 | single nucleotide variant | NM_003091.4(SNRPB):c.513C>T (p.Gly171=) | not provided [RCV005194712] | likely benign | 20 | 2463135 | 2463135 | Human | | name |
| 598171428 | CV3911598 | single nucleotide variant | NM_003091.4(SNRPB):c.47G>A (p.Arg16Lys) | Inborn genetic diseases [RCV005284839] | uncertain significance | 20 | 2467715 | 2467715 | Human | 1 | name |
| 15163161 | CV705413 | single nucleotide variant | NM_003091.4(SNRPB):c.612G>A (p.Gly204=) | SNRPB-related disorder [RCV003933259]|not provided [RCV000948017] | benign | 20 | 2462709 | 2462709 | Human | 1 | name , trait , alternate_id |
| 15153658 | CV728578 | single nucleotide variant | NM_003091.4(SNRPB):c.318C>T (p.Ile106=) | SNRPB-related disorder [RCV003948296]|not provided [RCV000880055] | likely benign | 20 | 2463849 | 2463849 | Human | 1 | name , trait , alternate_id |
| 15167795 | CV757408 | single nucleotide variant | NM_003091.4(SNRPB):c.411A>C (p.Pro137=) | not provided [RCV000927162] | likely benign | 20 | 2463756 | 2463756 | Human | | name |
| 15123096 | CV773024 | single nucleotide variant | NM_003091.4(SNRPB):c.348T>C (p.Ala116=) | not provided [RCV000940793] | likely benign | 20 | 2463819 | 2463819 | Human | | name |
| 151725396 | CV1433248 | single nucleotide variant | NM_003091.4(SNRPB):c.286C>A (p.Pro96Thr) | not provided [RCV001983618] | uncertain significance | 20 | 2463881 | 2463881 | Human | | name |
| 151817617 | CV1435947 | single nucleotide variant | NM_003091.4(SNRPB):c.289C>A (p.Leu97Ile) | not provided [RCV001975412] | uncertain significance | 20 | 2463878 | 2463878 | Human | | name |
| 156060146 | CV2008221 | single nucleotide variant | NM_003091.4(SNRPB):c.131A>C (p.Asp44Ala) | not provided [RCV002705357] | uncertain significance | 20 | 2467631 | 2467631 | Human | | name |
| 156158411 | CV2142712 | single nucleotide variant | NM_003091.4(SNRPB):c.176C>G (p.Ala59Gly) | not provided [RCV002982907] | uncertain significance | 20 | 2465799 | 2465799 | Human | | name |
| 156368757 | CV2160325 | single nucleotide variant | NM_003091.4(SNRPB):c.138T>G (p.Asp46Glu) | not provided [RCV003032065] | uncertain significance | 20 | 2467624 | 2467624 | Human | | name |
| 156440086 | CV2401770 | deletion | NM_003091.4(SNRPB):c.621del (p.Gly208fs) | not provided [RCV003110058] | likely pathogenic | 20 | 2462700 | 2462700 | Human | | name |
| 405219296 | CV2903881 | single nucleotide variant | NM_003091.4(SNRPB):c.206T>C (p.Leu69Pro) | not provided [RCV003568164] | uncertain significance | 20 | 2465769 | 2465769 | Human | | name |
| 405128720 | CV3054303 | single nucleotide variant | NM_003091.4(SNRPB):c.112A>G (p.Met38Val) | not provided [RCV003724564] | uncertain significance | 20 | 2467650 | 2467650 | Human | | name |
| 405135126 | CV3160217 | single nucleotide variant | NM_003091.4(SNRPB):c.245T>C (p.Val82Ala) | not provided [RCV003855032] | uncertain significance | 20 | 2465730 | 2465730 | Human | | name |
| 405274478 | CV3208834 | duplication | NM_003091.4(SNRPB):c.451dup (p.Ala151fs) | SNRPB-related disorder [RCV003951634] | uncertain significance | 20 | 2463196 | 2463197 | Human | | name , trait , alternate_id |
| 407507316 | CV3496266 | single nucleotide variant | NM_003091.4(SNRPB):c.171A>T (p.Lys57Asn) | not provided [RCV004698107] | uncertain significance | 20 | 2465804 | 2465804 | Human | | name |
| 408386865 | CV3518582 | single nucleotide variant | NM_003091.4(SNRPB):c.217C>G (p.Arg73Gly) | not provided [RCV004760900] | uncertain significance | 20 | 2465758 | 2465758 | Human | | name |
| 598171432 | CV3911600 | single nucleotide variant | NM_003091.4(SNRPB):c.260C>A (p.Pro87His) | Inborn genetic diseases [RCV005284840] | uncertain significance | 20 | 2465715 | 2465715 | Human | 1 | name |
| 151841807 | CV1362941 | single nucleotide variant | NM_003091.4(SNRPB):c.526C>G (p.Pro176Ala) | not provided [RCV002015426] | uncertain significance | 20 | 2463122 | 2463122 | Human | | name |
| 151892191 | CV1423097 | single nucleotide variant | NM_003091.4(SNRPB):c.615C>G (p.Ile205Met) | not provided [RCV001943856] | uncertain significance | 20 | 2462706 | 2462706 | Human | | name |
| 151875155 | CV1459839 | single nucleotide variant | NM_003091.4(SNRPB):c.400G>A (p.Val134Ile) | not provided [RCV002036165] | uncertain significance | 20 | 2463767 | 2463767 | Human | | name |
| 151838523 | CV1470336 | single nucleotide variant | NM_003091.4(SNRPB):c.443G>A (p.Gly148Asp) | not provided [RCV001902563] | uncertain significance | 20 | 2463205 | 2463205 | Human | | name |
| 151864731 | CV1478850 | single nucleotide variant | NM_003091.4(SNRPB):c.572C>A (p.Pro191Gln) | not provided [RCV002018197] | uncertain significance | 20 | 2462749 | 2462749 | Human | | name |
| 151718300 | CV1509579 | single nucleotide variant | NM_003091.4(SNRPB):c.530C>T (p.Pro177Leu) | not provided [RCV001890681] | uncertain significance | 20 | 2463118 | 2463118 | Human | | name |
| 156441499 | CV1940883 | single nucleotide variant | NM_003091.4(SNRPB):c.356C>T (p.Pro119Leu) | not provided [RCV003111825] | uncertain significance | 20 | 2463811 | 2463811 | Human | | name |
| 156263795 | CV1960767 | single nucleotide variant | NM_003091.4(SNRPB):c.530C>A (p.Pro177Gln) | Inborn genetic diseases [RCV003269180]|not provided [RCV002576934] | uncertain significance | 20 | 2463118 | 2463118 | Human | 1 | name |
| 156320520 | CV1976011 | single nucleotide variant | NM_003091.4(SNRPB):c.530C>G (p.Pro177Arg) | not provided [RCV002600201] | uncertain significance | 20 | 2463118 | 2463118 | Human | | name |
| 156089695 | CV2016284 | single nucleotide variant | NM_003091.4(SNRPB):c.490G>C (p.Ala164Pro) | not provided [RCV002706267] | uncertain significance | 20 | 2463158 | 2463158 | Human | | name |
| 156068444 | CV2018440 | single nucleotide variant | NM_003091.4(SNRPB):c.653C>T (p.Pro218Leu) | not provided [RCV002705606] | uncertain significance | 20 | 2462668 | 2462668 | Human | | name |
| 156381743 | CV2060861 | single nucleotide variant | NM_003091.4(SNRPB):c.515G>A (p.Arg172His) | not provided [RCV002815134] | uncertain significance | 20 | 2463133 | 2463133 | Human | | name |
| 156121269 | CV2174933 | single nucleotide variant | NM_003091.4(SNRPB):c.607A>T (p.Met203Leu) | Inborn genetic diseases [RCV005281298]|not provided [RCV003055476] | uncertain significance | 20 | 2462714 | 2462714 | Human | 1 | name |
| 243061322 | CV2408837 | single nucleotide variant | NM_003091.4(SNRPB):c.457G>A (p.Ala153Thr) | Cerebro-costo-mandibular syndrome [RCV003138554]|not provided [RCV003778791] | uncertain significance | 20 | 2463191 | 2463191 | Human | 1 | name |
| 11636491 | CV273704 | single nucleotide variant | NM_003091.4(SNRPB):c.607A>G (p.Met203Val) | Inborn genetic diseases [RCV005278545]|not provided [RCV000269890] | uncertain significance | 20 | 2462714 | 2462714 | Human | 1 | name |
| 405180176 | CV2956194 | single nucleotide variant | NM_003091.4(SNRPB):c.535A>G (p.Met179Val) | not provided [RCV003676186] | uncertain significance | 20 | 2463113 | 2463113 | Human | | name |
| 405167194 | CV3156815 | single nucleotide variant | NM_003091.4(SNRPB):c.359T>C (p.Met120Thr) | not provided [RCV003857519] | uncertain significance | 20 | 2463808 | 2463808 | Human | | name |
| 405203847 | CV3165264 | single nucleotide variant | NM_003091.4(SNRPB):c.526C>T (p.Pro176Ser) | not provided [RCV003861125] | uncertain significance | 20 | 2463122 | 2463122 | Human | | name |
| 405731652 | CV3326290 | single nucleotide variant | NM_003091.4(SNRPB):c.616C>T (p.Pro206Ser) | Inborn genetic diseases [RCV004464414] | uncertain significance | 20 | 2462705 | 2462705 | Human | 1 | name |
| 597925451 | CV3788218 | single nucleotide variant | NM_003091.4(SNRPB):c.386G>T (p.Gly129Val) | not provided [RCV005130909] | uncertain significance | 20 | 2463781 | 2463781 | Human | | name |
| 597972463 | CV3790323 | single nucleotide variant | NM_003091.4(SNRPB):c.446C>T (p.Thr149Ile) | not provided [RCV005142746] | uncertain significance | 20 | 2463202 | 2463202 | Human | | name |
| 597947417 | CV3800693 | single nucleotide variant | NM_003091.4(SNRPB):c.569G>A (p.Gly190Asp) | not provided [RCV005135093] | uncertain significance | 20 | 2462752 | 2462752 | Human | | name |
| 597858280 | CV3817042 | single nucleotide variant | NM_003091.4(SNRPB):c.643A>G (p.Met215Val) | not provided [RCV005146423] | uncertain significance | 20 | 2462678 | 2462678 | Human | | name |
| 598171437 | CV3911601 | single nucleotide variant | NM_003091.4(SNRPB):c.352G>T (p.Val118Phe) | Inborn genetic diseases [RCV005284841] | uncertain significance | 20 | 2463815 | 2463815 | Human | 1 | name |
| 15200600 | CV757407 | single nucleotide variant | NM_003091.4(SNRPB):c.604C>T (p.Pro202Ser) | not provided [RCV000912892] | benign | 20 | 2462717 | 2462717 | Human | | name |
| 405731663 | CV3326292 | single nucleotide variant | NM_003092.5(SNRPB2):c.519G>A (p.Gln173=) | not specified [RCV004464416] | likely benign | 20 | 16740846 | 16740846 | Human | | name |
| 156164911 | CV2195928 | single nucleotide variant | NM_003092.5(SNRPB2):c.227G>A (p.Gly76Asp) | not specified [RCV004072186] | uncertain significance | 20 | 16732326 | 16732326 | Human | | name |
| 156268850 | CV2326333 | single nucleotide variant | NM_003092.5(SNRPB2):c.179G>A (p.Gly60Asp) | not specified [RCV004180875] | uncertain significance | 20 | 16732278 | 16732278 | Human | | name |
| 405731660 | CV3326291 | single nucleotide variant | NM_003092.5(SNRPB2):c.146G>T (p.Arg49Met) | not specified [RCV004464415] | uncertain significance | 20 | 16732245 | 16732245 | Human | | name |
| 401763653 | CV2717078 | single nucleotide variant | NM_003092.5(SNRPB2):c.452A>G (p.Tyr151Cys) | not specified [RCV004330104] | uncertain significance | 20 | 16740347 | 16740347 | Human | | name |
| 401877628 | CV2779888 | single nucleotide variant | NM_003092.5(SNRPB2):c.361A>G (p.Asn121Asp) | not specified [RCV004353503] | uncertain significance | 20 | 16737384 | 16737384 | Human | | name |
| 597745000 | CV3607100 | single nucleotide variant | NM_003092.5(SNRPB2):c.337G>A (p.Val113Met) | not specified [RCV004865582] | uncertain significance | 20 | 16737360 | 16737360 | Human | | name |
| 597745005 | CV3607101 | single nucleotide variant | NM_003092.5(SNRPB2):c.356C>T (p.Thr119Ile) | not specified [RCV004865583] | uncertain significance | 20 | 16737379 | 16737379 | Human | | name |