| 8621562 | CV75536 | single nucleotide variant | NM_019841.7(TRPV5):c.33C>T (p.Pro11=) | not provided [RCV000054758] | uncertain significance | 7 | 142933427 | 142933427 | Human | | name |
| 401854414 | CV2777616 | single nucleotide variant | NM_019841.7(TRPV5):c.13C>A (p.Leu5Ile) | not specified [RCV004343461] | uncertain significance | 7 | 142933447 | 142933447 | Human | | name |
| 405777479 | CV3344521 | single nucleotide variant | NM_019841.7(TRPV5):c.62C>A (p.Ser21Tyr) | not specified [RCV004471366] | uncertain significance | 7 | 142933398 | 142933398 | Human | | name |
| 597681525 | CV3621378 | single nucleotide variant | NM_019841.7(TRPV5):c.88G>C (p.Asp30His) | not specified [RCV004883638] | uncertain significance | 7 | 142933372 | 142933372 | Human | | name |
| 15158474 | CV699901 | single nucleotide variant | NM_019841.7(TRPV5):c.843G>A (p.Thr281=) | not provided [RCV000947080] | benign | 7 | 142928154 | 142928154 | Human | | name |
| 15158477 | CV699902 | single nucleotide variant | NM_019841.7(TRPV5):c.666T>C (p.Tyr222=) | not provided [RCV000947081] | benign | 7 | 142928787 | 142928787 | Human | | name |
| 15186998 | CV722366 | single nucleotide variant | NM_019841.7(TRPV5):c.68T>C (p.Leu23Pro) | not provided [RCV000887133] | benign | 7 | 142933392 | 142933392 | Human | | name |
| 8621565 | CV75539 | single nucleotide variant | NM_019841.7(TRPV5):c.966C>T (p.Asn322=) | not provided [RCV000054761] | uncertain significance | 7 | 142925685 | 142925685 | Human | | name |
| 329361341 | CV2459638 | single nucleotide variant | NM_019841.7(TRPV5):c.284C>G (p.Ala95Gly) | not specified [RCV004277076] | uncertain significance | 7 | 142930123 | 142930123 | Human | | name |
| 329398758 | CV2471696 | single nucleotide variant | NM_019841.7(TRPV5):c.266A>G (p.Tyr89Cys) | not specified [RCV004286978] | uncertain significance | 7 | 142930141 | 142930141 | Human | | name |
| 401755951 | CV2686171 | single nucleotide variant | NM_019841.7(TRPV5):c.148C>T (p.Leu50Phe) | not specified [RCV004297270] | uncertain significance | 7 | 142930427 | 142930427 | Human | | name |
| 401885948 | CV2771520 | single nucleotide variant | NM_019841.7(TRPV5):c.113T>C (p.Met38Thr) | not specified [RCV004348551] | uncertain significance | 7 | 142933347 | 142933347 | Human | | name |
| 405777445 | CV3344515 | single nucleotide variant | NM_019841.7(TRPV5):c.100G>A (p.Asp34Asn) | not specified [RCV004471360] | uncertain significance | 7 | 142933360 | 142933360 | Human | | name |
| 597681433 | CV3621365 | single nucleotide variant | NM_019841.7(TRPV5):c.218G>A (p.Arg73Gln) | not specified [RCV004883626] | uncertain significance | 7 | 142930357 | 142930357 | Human | | name |
| 597681447 | CV3621367 | single nucleotide variant | NM_019841.7(TRPV5):c.281C>T (p.Ala94Val) | not specified [RCV004883628] | uncertain significance | 7 | 142930126 | 142930126 | Human | | name |
| 597681488 | CV3621372 | single nucleotide variant | NM_019841.7(TRPV5):c.175T>G (p.Ser59Ala) | not specified [RCV004883633] | uncertain significance | 7 | 142930400 | 142930400 | Human | | name |
| 597681503 | CV3621375 | single nucleotide variant | NM_019841.7(TRPV5):c.205A>C (p.Thr69Pro) | not specified [RCV004883635] | uncertain significance | 7 | 142930370 | 142930370 | Human | | name |
| 598215550 | CV3928419 | single nucleotide variant | NM_019841.7(TRPV5):c.161A>G (p.Lys54Arg) | not specified [RCV005292748] | uncertain significance | 7 | 142930414 | 142930414 | Human | | name |
| 598215516 | CV3932299 | single nucleotide variant | NM_019841.7(TRPV5):c.242C>T (p.Thr81Met) | not specified [RCV005292742] | uncertain significance | 7 | 142930165 | 142930165 | Human | | name |
| 15158467 | CV699900 | single nucleotide variant | NM_019841.7(TRPV5):c.1032T>C (p.Thr344=) | not provided [RCV000947079] | benign | 7 | 142925619 | 142925619 | Human | | name |
| 8621559 | CV75533 | single nucleotide variant | NM_019841.7(TRPV5):c.1035G>A (p.Thr345=) | not provided [RCV000054755] | uncertain significance | 7 | 142925616 | 142925616 | Human | | name |
| 8621561 | CV75535 | single nucleotide variant | NM_019841.7(TRPV5):c.1968G>A (p.Lys656=) | not provided [RCV000054757] | uncertain significance | 7 | 142908736 | 142908736 | Human | | name |
| 8632410 | CV87618 | single nucleotide variant | NM_019841.6(TRPV5):c.1203C>T (p.Leu401=) | Malignant melanoma [RCV000067710] | not provided | 7 | 142915488 | 142915488 | Human | | name |
| 156252227 | CV2212422 | single nucleotide variant | NM_019841.7(TRPV5):c.472A>C (p.Asn158His) | not specified [RCV004091340] | uncertain significance | 7 | 142929443 | 142929443 | Human | | name |
| 156060563 | CV2239460 | single nucleotide variant | NM_019841.7(TRPV5):c.458G>A (p.Arg153His) | not specified [RCV004114178] | uncertain significance | 7 | 142929457 | 142929457 | Human | | name |
| 156170799 | CV2277033 | single nucleotide variant | NM_019841.7(TRPV5):c.851A>G (p.Asp284Gly) | not specified [RCV004140353] | uncertain significance | 7 | 142928146 | 142928146 | Human | | name |
| 156258798 | CV2277775 | single nucleotide variant | NM_019841.7(TRPV5):c.727C>T (p.Pro243Ser) | not specified [RCV004147207] | uncertain significance | 7 | 142928726 | 142928726 | Human | | name |
| 156077817 | CV2291679 | single nucleotide variant | NM_019841.7(TRPV5):c.976C>T (p.Arg326Trp) | not specified [RCV004155962] | uncertain significance | 7 | 142925675 | 142925675 | Human | | name |
| 156289823 | CV2299399 | single nucleotide variant | NM_019841.7(TRPV5):c.539G>A (p.Arg180Gln) | not specified [RCV004154485] | uncertain significance | 7 | 142929069 | 142929069 | Human | | name |
| 156040241 | CV2310782 | single nucleotide variant | NM_019841.7(TRPV5):c.982T>C (p.Tyr328His) | not specified [RCV004157708] | uncertain significance | 7 | 142925669 | 142925669 | Human | | name |
| 155995237 | CV2375798 | single nucleotide variant | NM_019841.7(TRPV5):c.457C>T (p.Arg153Cys) | not specified [RCV004224383] | likely benign | 7 | 142929458 | 142929458 | Human | | name |
| 401864293 | CV2760882 | single nucleotide variant | NM_019841.7(TRPV5):c.977G>A (p.Arg326Gln) | not specified [RCV004336517] | uncertain significance | 7 | 142925674 | 142925674 | Human | | name |
| 405777474 | CV3344520 | single nucleotide variant | NM_019841.7(TRPV5):c.326C>T (p.Pro109Leu) | not specified [RCV004471365] | uncertain significance | 7 | 142930081 | 142930081 | Human | | name |
| 405777485 | CV3344522 | single nucleotide variant | NM_019841.7(TRPV5):c.669T>G (p.Asp223Glu) | not specified [RCV004471367] | uncertain significance | 7 | 142928784 | 142928784 | Human | | name |
| 405777490 | CV3344523 | single nucleotide variant | NM_019841.7(TRPV5):c.706C>T (p.Pro236Ser) | not specified [RCV004471368] | uncertain significance | 7 | 142928747 | 142928747 | Human | | name |
| 405777495 | CV3344524 | single nucleotide variant | NM_019841.7(TRPV5):c.821C>T (p.Thr274Ile) | not specified [RCV004471369] | uncertain significance | 7 | 142928176 | 142928176 | Human | | name |
| 405777509 | CV3344526 | single nucleotide variant | NM_019841.7(TRPV5):c.980C>T (p.Pro327Leu) | not specified [RCV004471371] | uncertain significance | 7 | 142925671 | 142925671 | Human | | name |
| 407527924 | CV3488939 | single nucleotide variant | NM_019841.7(TRPV5):c.571G>A (p.Ala191Thr) | not specified [RCV004680200] | uncertain significance | 7 | 142929037 | 142929037 | Human | | name |
| 407527927 | CV3488940 | single nucleotide variant | NM_019841.7(TRPV5):c.765G>A (p.Met255Ile) | not specified [RCV004680201] | uncertain significance | 7 | 142928232 | 142928232 | Human | | name |
| 407527930 | CV3488941 | single nucleotide variant | NM_019841.7(TRPV5):c.740C>T (p.Ala247Val) | not specified [RCV004680202] | uncertain significance | 7 | 142928713 | 142928713 | Human | | name |
| 597681441 | CV3621366 | single nucleotide variant | NM_019841.7(TRPV5):c.469C>T (p.Arg157Cys) | not specified [RCV004883627] | uncertain significance | 7 | 142929446 | 142929446 | Human | | name |
| 597681462 | CV3621369 | single nucleotide variant | NM_019841.7(TRPV5):c.847A>G (p.Ile283Val) | not specified [RCV004883630] | uncertain significance | 7 | 142928150 | 142928150 | Human | | name |
| 597681510 | CV3621376 | single nucleotide variant | NM_019841.7(TRPV5):c.670G>A (p.Gly224Arg) | not specified [RCV004883636] | uncertain significance | 7 | 142928783 | 142928783 | Human | | name |
| 597681517 | CV3621377 | single nucleotide variant | NM_019841.7(TRPV5):c.531G>T (p.Glu177Asp) | not specified [RCV004883637] | uncertain significance | 7 | 142929077 | 142929077 | Human | | name |
| 597681534 | CV3621379 | single nucleotide variant | NM_019841.7(TRPV5):c.752G>A (p.Gly251Asp) | not specified [RCV004883639] | uncertain significance | 7 | 142928701 | 142928701 | Human | | name |
| 598215539 | CV3928415 | single nucleotide variant | NM_019841.7(TRPV5):c.492G>T (p.Glu164Asp) | not specified [RCV005292746] | uncertain significance | 7 | 142929116 | 142929116 | Human | | name |
| 598237116 | CV3928418 | single nucleotide variant | NM_019841.7(TRPV5):c.394C>A (p.Leu132Met) | not specified [RCV005296182] | uncertain significance | 7 | 142929521 | 142929521 | Human | | name |
| 598237120 | CV3928422 | single nucleotide variant | NM_019841.7(TRPV5):c.791G>A (p.Arg264Lys) | not specified [RCV005296183] | likely benign | 7 | 142928206 | 142928206 | Human | | name |
| 598215567 | CV3928423 | single nucleotide variant | NM_019841.7(TRPV5):c.425G>T (p.Ser142Ile) | not specified [RCV005292751] | uncertain significance | 7 | 142929490 | 142929490 | Human | | name |
| 598237106 | CV3932300 | single nucleotide variant | NM_019841.7(TRPV5):c.304G>A (p.Ala102Thr) | not specified [RCV005296180] | uncertain significance | 7 | 142930103 | 142930103 | Human | | name |
| 15158483 | CV699903 | single nucleotide variant | NM_019841.7(TRPV5):c.461A>G (p.His154Arg) | not provided [RCV000947082] | benign | 7 | 142929454 | 142929454 | Human | | name |
| 15138292 | CV710831 | single nucleotide variant | NM_019841.7(TRPV5):c.787C>T (p.Arg263Trp) | not provided [RCV000965766] | benign | 7 | 142928210 | 142928210 | Human | | name |
| 8621563 | CV75537 | single nucleotide variant | NM_019841.7(TRPV5):c.470G>A (p.Arg157His) | not provided [RCV000054759] | uncertain significance | 7 | 142929445 | 142929445 | Human | | name |
| 8621564 | CV75538 | single nucleotide variant | NM_019841.7(TRPV5):c.535G>A (p.Val179Met) | not provided [RCV000054760] | uncertain significance | 7 | 142929073 | 142929073 | Human | | name |
| 8626354 | CV81498 | single nucleotide variant | NM_019841.6(TRPV5):c.572C>T (p.Ala191Val) | Malignant melanoma [RCV000061576] | not provided | 7 | 142929036 | 142929036 | Human | | name |
| 156030105 | CV2206205 | single nucleotide variant | NM_019841.7(TRPV5):c.2011G>A (p.Ala671Thr) | not specified [RCV004080643] | likely benign | 7 | 142908693 | 142908693 | Human | | name |
| 156307727 | CV2249422 | single nucleotide variant | NM_019841.7(TRPV5):c.1022T>A (p.Ile341Asn) | not specified [RCV004120482] | uncertain significance | 7 | 142925629 | 142925629 | Human | | name |
| 156144471 | CV2264981 | single nucleotide variant | NM_019841.7(TRPV5):c.1396A>G (p.Met466Val) | not specified [RCV004126153] | uncertain significance | 7 | 142914937 | 142914937 | Human | | name |
| 155907485 | CV2302224 | single nucleotide variant | NM_019841.7(TRPV5):c.1790T>C (p.Val597Ala) | not specified [RCV004159217] | uncertain significance | 7 | 142909595 | 142909595 | Human | | name |
| 155922761 | CV2347377 | single nucleotide variant | NM_019841.7(TRPV5):c.2129G>A (p.Gly710Glu) | not specified [RCV004207217] | uncertain significance | 7 | 142908575 | 142908575 | Human | | name |
| 156285339 | CV2360782 | single nucleotide variant | NM_019841.7(TRPV5):c.2075C>T (p.Ala692Val) | not specified [RCV004213559] | uncertain significance | 7 | 142908629 | 142908629 | Human | | name |
| 156100741 | CV2392968 | single nucleotide variant | NM_019841.7(TRPV5):c.1397T>C (p.Met466Thr) | not specified [RCV004242822] | uncertain significance | 7 | 142914936 | 142914936 | Human | | name |
| 329358862 | CV2425415 | single nucleotide variant | NM_019841.7(TRPV5):c.1928G>A (p.Arg643Gln) | not specified [RCV004251071] | uncertain significance | 7 | 142908776 | 142908776 | Human | | name |
| 329382926 | CV2465478 | single nucleotide variant | NM_019841.7(TRPV5):c.1277A>G (p.His426Arg) | not specified [RCV004281242] | uncertain significance | 7 | 142915316 | 142915316 | Human | | name |
| 401874970 | CV2478099 | single nucleotide variant | NM_019841.7(TRPV5):c.1792G>A (p.Val598Met) | Renal Calcium Wasting Hypercalciuria [RCV003332422] | pathogenic | 7 | 142909593 | 142909593 | Human | | name |
| 401737858 | CV2703676 | single nucleotide variant | NM_019841.7(TRPV5):c.1681G>C (p.Ala561Pro) | not specified [RCV004315927] | uncertain significance | 7 | 142912589 | 142912589 | Human | | name |
| 401757807 | CV2707976 | single nucleotide variant | NM_019841.7(TRPV5):c.1034C>T (p.Thr345Met) | not specified [RCV004309233] | likely benign | 7 | 142925617 | 142925617 | Human | | name |
| 401765310 | CV2712630 | single nucleotide variant | NM_019841.7(TRPV5):c.1100T>C (p.Ile367Thr) | not specified [RCV004307956] | uncertain significance | 7 | 142925551 | 142925551 | Human | | name |
| 405261229 | CV3212446 | single nucleotide variant | NM_019841.7(TRPV5):c.2042T>C (p.Leu681Ser) | TRPV5-related disorder [RCV003944414] | likely benign | 7 | 142908662 | 142908662 | Human | | name , trait , alternate_id |
| 405271213 | CV3218936 | single nucleotide variant | NM_019841.7(TRPV5):c.1681G>A (p.Ala561Thr) | TRPV5-related disorder [RCV003971674] | likely benign | 7 | 142912589 | 142912589 | Human | | name , trait , alternate_id |
| 405777457 | CV3344517 | single nucleotide variant | NM_019841.7(TRPV5):c.1241G>A (p.Arg414His) | not specified [RCV004471362] | uncertain significance | 7 | 142915352 | 142915352 | Human | | name |
| 405777464 | CV3344518 | single nucleotide variant | NM_019841.7(TRPV5):c.1382G>A (p.Gly461Asp) | not specified [RCV004471363] | uncertain significance | 7 | 142914951 | 142914951 | Human | | name |
| 405777470 | CV3344519 | single nucleotide variant | NM_019841.7(TRPV5):c.2170G>A (p.Glu724Lys) | not specified [RCV004471364] | uncertain significance | 7 | 142908534 | 142908534 | Human | | name |
| 407527921 | CV3488938 | single nucleotide variant | NM_019841.7(TRPV5):c.2102G>C (p.Trp701Ser) | not specified [RCV004680199] | uncertain significance | 7 | 142908602 | 142908602 | Human | | name |
| 407461791 | CV3488944 | single nucleotide variant | NM_019841.7(TRPV5):c.1906C>T (p.His636Tyr) | not specified [RCV004687747] | uncertain significance | 7 | 142908798 | 142908798 | Human | | name |
| 597681424 | CV3621364 | single nucleotide variant | NM_019841.7(TRPV5):c.2047C>G (p.Leu683Val) | not specified [RCV004883625] | uncertain significance | 7 | 142908657 | 142908657 | Human | | name |
| 597681455 | CV3621368 | single nucleotide variant | NM_019841.7(TRPV5):c.1730T>G (p.Met577Arg) | not specified [RCV004883629] | uncertain significance | 7 | 142912540 | 142912540 | Human | | name |
| 597681471 | CV3621370 | single nucleotide variant | NM_019841.7(TRPV5):c.1520C>T (p.Ala507Val) | not specified [RCV004883631] | uncertain significance | 7 | 142912750 | 142912750 | Human | | name |
| 597681481 | CV3621371 | single nucleotide variant | NM_019841.7(TRPV5):c.1087C>G (p.Arg363Gly) | not specified [RCV004883632] | uncertain significance | 7 | 142925564 | 142925564 | Human | | name |
| 597681496 | CV3621374 | single nucleotide variant | NM_019841.7(TRPV5):c.1211T>C (p.Ile404Thr) | not specified [RCV004883634] | uncertain significance | 7 | 142915382 | 142915382 | Human | | name |
| 598215533 | CV3928414 | single nucleotide variant | NM_019841.7(TRPV5):c.1905C>A (p.Asn635Lys) | not specified [RCV005292745] | uncertain significance | 7 | 142908799 | 142908799 | Human | | name |
| 598215544 | CV3928417 | single nucleotide variant | NM_019841.7(TRPV5):c.1910A>G (p.Asn637Ser) | not specified [RCV005292747] | uncertain significance | 7 | 142908794 | 142908794 | Human | | name |
| 598215556 | CV3928420 | single nucleotide variant | NM_019841.7(TRPV5):c.1165G>C (p.Glu389Gln) | not specified [RCV005292749] | uncertain significance | 7 | 142915526 | 142915526 | Human | | name |
| 598215562 | CV3928421 | single nucleotide variant | NM_019841.7(TRPV5):c.1126G>T (p.Ala376Ser) | not specified [RCV005292750] | uncertain significance | 7 | 142915565 | 142915565 | Human | | name |
| 598215521 | CV3932301 | single nucleotide variant | NM_019841.7(TRPV5):c.1216G>T (p.Asp406Tyr) | not specified [RCV005292743] | uncertain significance | 7 | 142915377 | 142915377 | Human | | name |
| 598215527 | CV3932302 | single nucleotide variant | NM_019841.7(TRPV5):c.2068C>T (p.Arg690Trp) | not specified [RCV005292744] | uncertain significance | 7 | 142908636 | 142908636 | Human | | name |
| 15163812 | CV699899 | single nucleotide variant | NM_019841.7(TRPV5):c.1687A>G (p.Thr563Ala) | not provided [RCV000948181] | benign | 7 | 142912583 | 142912583 | Human | | name |
| 8621560 | CV75534 | single nucleotide variant | NM_019841.7(TRPV5):c.1829G>A (p.Arg610His) | not provided [RCV000054756] | uncertain significance | 7 | 142909556 | 142909556 | Human | | name |
| 8632408 | CV87616 | single nucleotide variant | NM_019841.6(TRPV5):c.1969G>A (p.Glu657Lys) | Malignant melanoma [RCV000067708] | not provided | 7 | 142908735 | 142908735 | Human | | name |
| 8632409 | CV87617 | single nucleotide variant | NM_019841.6(TRPV5):c.1612C>T (p.Leu538Phe) | Malignant melanoma [RCV000067709] | not provided | 7 | 142912658 | 142912658 | Human | | name |
