ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=) rs377244811 0.00066
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=) rs138177808 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384140.1(PCDH15):c.4671+1468A>G rs761431484 0.00009
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384140.1(PCDH15):c.4671+1392dup rs757596933 0.00006
NM_001384140.1(PCDH15):c.3717+10T>C rs376158566 0.00004
NM_001384140.1(PCDH15):c.3596C>T (p.Thr1199Ile) rs794727445 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=) rs754253198 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001384140.1(PCDH15):c.4672-1638C>T rs775641445 0.00002
NM_001384140.1(PCDH15):c.1306-4086A>T rs1564635870 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988 0.00001
NM_001384140.1(PCDH15):c.4294G>C (p.Val1432Leu) rs886043533 0.00001
NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071 0.00001
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_001384140.1(PCDH15):c.2120T>G (p.Val707Gly) rs942872443
NM_001384140.1(PCDH15):c.2161C>G (p.Leu721Val) rs794727217
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_001384140.1(PCDH15):c.3942C>G (p.Asp1314Glu) rs1356928617
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_001384140.1(PCDH15):c.4671+1633T>A rs886042518
NM_001384140.1(PCDH15):c.4672-4_4672-2dup rs773129893
NM_033056.4(PCDH15):c.4810A>C (p.Arg1604=) rs558224212
NM_033056.4(PCDH15):c.5010_5015del (p.1669FS[1]) rs766452153
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs) rs794727570

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