| 405271682 | CV3206222 | single nucleotide variant | NM_003301.7(TRHR):c.9C>T (p.Asn3=) | TRHR-related disorder [RCV003971873] | likely benign | 8 | 109087521 | 109087521 | Human | | name , trait , alternate_id |
| 15188037 | CV722793 | single nucleotide variant | NM_003301.7(TRHR):c.123A>G (p.Val41=) | TRHR-related disorder [RCV003920686]|not provided [RCV000887419] | benign|likely benign | 8 | 109087635 | 109087635 | Human | 1 | name , trait , alternate_id |
| 329373360 | CV2434223 | single nucleotide variant | NM_003301.7(TRHR):c.35C>T (p.Thr12Ile) | Inborn genetic diseases [RCV003173086] | uncertain significance | 8 | 109087547 | 109087547 | Human | 1 | name |
| 8599111 | CV27721 | single nucleotide variant | NM_003301.7(TRHR):c.49C>T (p.Arg17Ter) | Hypothyroidism, congenital, nongoitrous, 7 [RCV004577712] | pathogenic | 8 | 109087561 | 109087561 | Human | 1 | name |
| 405285018 | CV3202322 | single nucleotide variant | NM_003301.7(TRHR):c.708T>C (p.Asn236=) | TRHR-related disorder [RCV003909595] | likely benign | 8 | 109088220 | 109088220 | Human | | name , trait , alternate_id |
| 15102439 | CV782982 | single nucleotide variant | NM_003301.7(TRHR):c.489G>A (p.Leu163=) | not provided [RCV000975797] | likely benign | 8 | 109088001 | 109088001 | Human | | name |
| 8632777 | CV87992 | single nucleotide variant | NM_003301.5(TRHR):c.966C>T (p.Leu322=) | Malignant melanoma [RCV000068084] | not provided | 8 | 109119224 | 109119224 | Human | | name |
| 8632778 | CV87993 | single nucleotide variant | NM_003301.5(TRHR):c.981C>T (p.Phe327=) | Malignant melanoma [RCV000068085] | not provided | 8 | 109119239 | 109119239 | Human | | name |
| 401909283 | CV2821232 | single nucleotide variant | NM_003301.7(TRHR):c.151A>C (p.Met51Leu) | not provided [RCV003423973] | uncertain significance | 8 | 109087663 | 109087663 | Human | | name |
| 405789566 | CV3340526 | single nucleotide variant | NM_003301.7(TRHR):c.232G>A (p.Ala78Thr) | Inborn genetic diseases [RCV004473571] | uncertain significance | 8 | 109087744 | 109087744 | Human | 1 | name |
| 405789445 | CV3340527 | single nucleotide variant | NM_003301.7(TRHR):c.290G>C (p.Gly97Ala) | Inborn genetic diseases [RCV004473572] | uncertain significance | 8 | 109087802 | 109087802 | Human | 1 | name |
| 598128825 | CV3886623 | single nucleotide variant | NM_003301.7(TRHR):c.1065C>T (p.Ser355=) | not provided [RCV005244283] | benign | 8 | 109119323 | 109119323 | Human | | name |
| 14981546 | CV676987 | single nucleotide variant | NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) | Hypothyroidism, congenital, nongoitrous, 7 [RCV004577917] | pathogenic|likely pathogenic | 8 | 109087754 | 109087754 | Human | 1 | name |
| 15132791 | CV736397 | single nucleotide variant | NM_003301.7(TRHR):c.1149T>C (p.Ser383=) | not provided [RCV000898019] | benign | 8 | 109119407 | 109119407 | Human | | name |
| 156240323 | CV2245969 | single nucleotide variant | NM_003301.7(TRHR):c.677A>C (p.Asp226Ala) | Inborn genetic diseases [RCV002768224] | uncertain significance | 8 | 109088189 | 109088189 | Human | 1 | name |
| 155901662 | CV2274553 | single nucleotide variant | NM_003301.7(TRHR):c.533C>A (p.Ser178Tyr) | Inborn genetic diseases [RCV002836592] | uncertain significance | 8 | 109088045 | 109088045 | Human | 1 | name |
| 156268134 | CV2296781 | single nucleotide variant | NM_003301.7(TRHR):c.432G>C (p.Lys144Asn) | Inborn genetic diseases [RCV002855846] | uncertain significance | 8 | 109087944 | 109087944 | Human | 1 | name |
| 156062122 | CV2323224 | single nucleotide variant | NM_003301.7(TRHR):c.928T>C (p.Tyr310His) | Inborn genetic diseases [RCV002950746] | uncertain significance | 8 | 109119186 | 109119186 | Human | 1 | name |
| 156332744 | CV2339832 | single nucleotide variant | NM_003301.7(TRHR):c.301A>G (p.Ile101Val) | Inborn genetic diseases [RCV002964369] | uncertain significance | 8 | 109087813 | 109087813 | Human | 1 | name |
| 597733168 | CV3617504 | single nucleotide variant | NM_003301.7(TRHR):c.625G>A (p.Val209Ile) | Inborn genetic diseases [RCV004964351] | uncertain significance | 8 | 109088137 | 109088137 | Human | 1 | name |
| 597733174 | CV3617505 | single nucleotide variant | NM_003301.7(TRHR):c.440T>A (p.Ile147Asn) | Inborn genetic diseases [RCV004964352] | uncertain significance | 8 | 109087952 | 109087952 | Human | 1 | name |
| 597733206 | CV3617510 | single nucleotide variant | NM_003301.7(TRHR):c.740T>C (p.Val247Ala) | Inborn genetic diseases [RCV004964357] | uncertain significance | 8 | 109088252 | 109088252 | Human | 1 | name |
| 598273909 | CV3924894 | single nucleotide variant | NM_003301.7(TRHR):c.667A>G (p.Ile223Val) | Inborn genetic diseases [RCV005303667] | uncertain significance | 8 | 109088179 | 109088179 | Human | 1 | name |
| 617153602 | CV4016676 | single nucleotide variant | NM_003301.7(TRHR):c.767G>T (p.Ser256Ile) | not provided [RCV005415773] | uncertain significance | 8 | 109088279 | 109088279 | Human | | name |
| 617153603 | CV4016677 | single nucleotide variant | NM_003301.7(TRHR):c.983G>A (p.Arg328His) | not provided [RCV005415774] | uncertain significance | 8 | 109119241 | 109119241 | Human | | name |
| 14981547 | CV676988 | single nucleotide variant | NM_003301.7(TRHR):c.392T>C (p.Ile131Thr) | Hypothyroidism, congenital, nongoitrous, 7 [RCV004577918] | pathogenic | 8 | 109087904 | 109087904 | Human | 1 | name |
| 15140238 | CV736396 | single nucleotide variant | NM_003301.7(TRHR):c.379A>G (p.Ile127Val) | not provided [RCV000899284] | likely benign | 8 | 109087891 | 109087891 | Human | | name |
| 8626503 | CV81647 | single nucleotide variant | NM_003301.5(TRHR):c.837G>A (p.Trp279Ter) | Malignant melanoma [RCV000061725] | not provided | 8 | 109119095 | 109119095 | Human | | name |
| 405789688 | CV3340525 | single nucleotide variant | NM_003301.7(TRHR):c.1025C>T (p.Thr342Ile) | Inborn genetic diseases [RCV004473570] | uncertain significance | 8 | 109119283 | 109119283 | Human | 1 | name |
| 407573837 | CV3498210 | single nucleotide variant | NM_003301.7(TRHR):c.1177G>C (p.Val393Leu) | not specified [RCV004702199] | uncertain significance | 8 | 109119435 | 109119435 | Human | | name |
| 597733178 | CV3617506 | single nucleotide variant | NM_003301.7(TRHR):c.1075G>A (p.Glu359Lys) | Inborn genetic diseases [RCV004964353] | uncertain significance | 8 | 109119333 | 109119333 | Human | 1 | name |
| 597733187 | CV3617507 | single nucleotide variant | NM_003301.7(TRHR):c.1033C>T (p.Pro345Ser) | Inborn genetic diseases [RCV004964354] | uncertain significance | 8 | 109119291 | 109119291 | Human | 1 | name |
| 597733194 | CV3617508 | single nucleotide variant | NM_003301.7(TRHR):c.1091G>T (p.Ser364Ile) | Inborn genetic diseases [RCV004964355] | uncertain significance | 8 | 109119349 | 109119349 | Human | 1 | name |
| 597733198 | CV3617509 | single nucleotide variant | NM_003301.7(TRHR):c.1042T>C (p.Tyr348His) | Inborn genetic diseases [RCV004964356] | uncertain significance | 8 | 109119300 | 109119300 | Human | 1 | name |
| 597733213 | CV3617511 | single nucleotide variant | NM_003301.7(TRHR):c.1052C>T (p.Ala351Val) | Inborn genetic diseases [RCV004964358] | uncertain significance | 8 | 109119310 | 109119310 | Human | 1 | name |
| 15112512 | CV722794 | single nucleotide variant | NM_003301.7(TRHR):c.1066G>A (p.Val356Ile) | not provided [RCV000894484]|not specified [RCV005236403] | likely benign | 8 | 109119324 | 109119324 | Human | | name |
| 8626504 | CV81648 | single nucleotide variant | NM_003301.5(TRHR):c.1181C>T (p.Ser394Phe) | Malignant melanoma [RCV000061726] | not provided | 8 | 109119439 | 109119439 | Human | | name |
| 597705400 | CV3725693 | deletion | NM_003301.7(TRHR):c.597_598del (p.Phe199fs) | Hypothyroidism, congenital, nongoitrous, 7 [RCV005048131] | likely pathogenic | 8 | 109088107 | 109088108 | Human | 1 | name |
| 8563263 | CV27720 | indel | NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) | Hypothyroidism, congenital, nongoitrous, 7 [RCV004577711] | pathogenic|likely pathogenic | 8 | 109087855 | 109087864 | Human | | name |
