ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 1F

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00028
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350 0.00018
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384140.1(PCDH15):c.2751+9T>C rs180804907 0.00009
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=) rs200792575 0.00008
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=) rs772650866 0.00007
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721 0.00007
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=) rs763230126 0.00006
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=) rs139873638 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=) rs572643730 0.00006
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=) rs746162109 0.00005
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416 0.00004
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=) rs61862392 0.00004
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=) rs994026891 0.00003
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) rs375134176 0.00003
NM_001384140.1(PCDH15):c.1918-6C>T rs776285978 0.00002
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=) rs765713345 0.00002
NM_001384140.1(PCDH15):c.4368-3204C>T rs375657329 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=) rs1427922641 0.00001
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=) rs777099546 0.00001
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=) rs768200772 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.4368-3207_4368-3204del rs1554821194 0.00001
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=) rs200141161 0.00001
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792 0.00001
NM_001384140.1(PCDH15):c.158-16930T>C rs207470941
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=) rs762026724
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=) rs1160719926
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4368-3205G>A rs776152870
NM_001384140.1(PCDH15):c.4368-3205del rs1554821197
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup rs373720521
NM_001384140.1(PCDH15):c.945G>A (p.Pro315=) rs150450873
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=) rs1564538186
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del) rs770671117
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=) rs534255804

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