ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance for Usher syndrome type 1D

Included ClinVar conditions (7):
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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.4368-1519A>G rs532994771 0.00036
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) rs199834829 0.00019
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=) rs749666237 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser) rs777886341 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del rs2132368553
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala) rs775845546
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly) rs2076305966
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164

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