ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser) rs139547641 0.00034
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
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.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala) rs61731381 0.00014
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly) rs61735482 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 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.19C>A (p.Leu7Ile) rs762092314 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile) rs187727835 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_001384140.1(PCDH15):c.1627G>A (p.Glu543Lys) rs187850596 0.00006
NM_001384140.1(PCDH15):c.1942A>G (p.Ile648Val) rs745647844 0.00006
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=) rs746404657 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.4671+1523G>T rs755005336 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe) rs140047846 0.00005
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser) rs141419177 0.00004
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 0.00003
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala) rs747795209 0.00002
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val) rs747028333 0.00002
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser) rs143149062 0.00002
NM_001384140.1(PCDH15):c.4063C>T (p.Arg1355Trp) rs759094376 0.00002
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln) rs371850442 0.00002
NM_001384140.1(PCDH15):c.4303C>A (p.Pro1435Thr) rs766039931 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) rs764162624 0.00001
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg) rs200226791 0.00001
NM_001384140.1(PCDH15):c.2336G>T (p.Arg779Ile) rs750573995 0.00001
NM_001384140.1(PCDH15):c.2436T>G (p.Ile812Met) rs1448817998 0.00001
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) rs763978654 0.00001
NM_001384140.1(PCDH15):c.4301C>T (p.Ala1434Val) rs572629527 0.00001
NM_001384140.1(PCDH15):c.4671+1449_4671+1457dup rs752753497 0.00001
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn) rs768952458 0.00001
NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) rs886047061 0.00001
NM_033056.4(PCDH15):c.5623C>A (p.Pro1875Thr) rs758308006 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NM_001384140.1(PCDH15):c.1037A>G (p.Glu346Gly)
NM_001384140.1(PCDH15):c.1190T>A (p.Met397Lys) rs2049553609
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly) rs1294048440
NM_001384140.1(PCDH15):c.1568G>C (p.Arg523Thr)
NM_001384140.1(PCDH15):c.16T>A (p.Tyr6Asn) rs2135422594
NM_001384140.1(PCDH15):c.1730G>T (p.Arg577Leu)
NM_001384140.1(PCDH15):c.174C>A (p.Asp58Glu) rs1169100269
NM_001384140.1(PCDH15):c.1834A>C (p.Ser612Arg) rs2133061496
NM_001384140.1(PCDH15):c.2119G>A (p.Val707Met)
NM_001384140.1(PCDH15):c.2135A>T (p.Asp712Val)
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2404A>G (p.Thr802Ala) rs371497605
NM_001384140.1(PCDH15):c.284T>A (p.Phe95Tyr) rs1190395687
NM_001384140.1(PCDH15):c.2869G>A (p.Gly957Arg)
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_001384140.1(PCDH15):c.3012G>C (p.Leu1004Phe)
NM_001384140.1(PCDH15):c.3101G>T (p.Arg1034Leu) rs907693214
NM_001384140.1(PCDH15):c.323C>T (p.Pro108Leu) rs1161238143
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly) rs563855694
NM_001384140.1(PCDH15):c.3476T>C (p.Met1159Thr) rs2133665045
NM_001384140.1(PCDH15):c.3671C>T (p.Ala1224Val)
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
NM_001384140.1(PCDH15):c.3797A>G (p.Asp1266Gly)
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.3861G>T (p.Glu1287Asp) rs771743967
NM_001384140.1(PCDH15):c.3917G>A (p.Cys1306Tyr) rs2132761276
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_001384140.1(PCDH15):c.4051A>G (p.Ile1351Val)
NM_001384140.1(PCDH15):c.4085G>T (p.Ser1362Ile)
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val) rs752371584
NM_001384140.1(PCDH15):c.4307C>G (p.Pro1436Arg)
NM_001384140.1(PCDH15):c.458A>G (p.Tyr153Cys)
NM_001384140.1(PCDH15):c.4955_4959dup (p.Leu1654fs) rs1003847739
NM_001384140.1(PCDH15):c.657G>T (p.Arg219Ser)
NM_001384140.1(PCDH15):c.71G>A (p.Cys24Tyr)
NM_001384140.1(PCDH15):c.836C>T (p.Pro279Leu) rs774256902
NM_001384140.1(PCDH15):c.946C>G (p.Pro316Ala)
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4905G>C (p.Glu1635Asp)
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup) rs772692454
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5341C>T (p.Pro1781Ser)
NM_033056.4(PCDH15):c.5353_5355del (p.Ser1785del) rs2132490441
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5429T>G (p.Leu1810Arg) rs1299654125
NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) rs776844300
NM_033056.4(PCDH15):c.5546C>T (p.Thr1849Met)
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala) rs1420803454
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs) rs568470164
NM_033056.4(PCDH15):c.5747A>G (p.Gln1916Arg)

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