ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by GeneDx

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322 0.00012
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn) rs376758763 0.00009
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553 0.00007
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2281G>A (p.Gly761Ser) rs761987610 0.00004
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr) rs144421853 0.00002
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) rs776239808 0.00002
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103 0.00002
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys) rs779430817 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile) rs773718324 0.00002
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673 0.00001
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838 0.00001
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met) rs905524850 0.00001
NM_020822.3(KCNT1):c.1627C>T (p.Gln543Ter) rs1479237463 0.00001
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.1975C>T (p.Arg659Cys) rs753599140 0.00001
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889 0.00001
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995 0.00001
NM_020822.3(KCNT1):c.2431G>A (p.Gly811Ser) rs748756591 0.00001
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His) rs747191095 0.00001
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631 0.00001
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp) rs1588309625 0.00001
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val) rs1834554393 0.00001
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr) rs1450163574 0.00001
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser) rs750374521 0.00001
NM_020822.3(KCNT1):c.453G>C (p.Gln151His) rs1831337399 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_020822.3(KCNT1):c.1033C>A (p.Gln345Lys) rs1131691442
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu) rs1832174053
NM_020822.3(KCNT1):c.1183G>A (p.Ala395Thr) rs1832174592
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) rs988871689
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser) rs1440098446
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
NM_020822.3(KCNT1):c.1306G>C (p.Ala436Pro) rs1832220041
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1488_1490del (p.Asn496del) rs2131498089
NM_020822.3(KCNT1):c.1607C>T (p.Thr536Met) rs1430492627
NM_020822.3(KCNT1):c.1626del (p.Gln543fs)
NM_020822.3(KCNT1):c.162G>A (p.Met54Ile) rs2131329345
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val) rs1832669452
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly) rs1588255313
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1840C>T (p.His614Tyr) rs1554775058
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1911C>G (p.Phe637Leu) rs759819281
NM_020822.3(KCNT1):c.1969C>G (p.Pro657Ala) rs763051647
NM_020822.3(KCNT1):c.1997T>C (p.Ile666Thr) rs2131512046
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr) rs892635002
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2206G>A (p.Val736Met)
NM_020822.3(KCNT1):c.2246A>G (p.Tyr749Cys)
NM_020822.3(KCNT1):c.2389_2390insTAG (p.Tyr796_Gly797insVal) rs2131543497
NM_020822.3(KCNT1):c.2470T>C (p.Tyr824His)
NM_020822.3(KCNT1):c.2485A>G (p.Lys829Glu) rs2131543999
NM_020822.3(KCNT1):c.2523-3C>T rs2131548258
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2770_2771delinsG (p.Pro924fs) rs1554778336
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.280G>A (p.Glu94Lys)
NM_020822.3(KCNT1):c.2861C>T (p.Ser954Phe)
NM_020822.3(KCNT1):c.3002C>A (p.Thr1001Lys) rs372775166
NM_020822.3(KCNT1):c.3120C>T (p.Ile1040=) rs866628924
NM_020822.3(KCNT1):c.3178-5C>T rs753073468
NM_020822.3(KCNT1):c.3236G>A (p.Trp1079Ter)
NM_020822.3(KCNT1):c.323A>C (p.Asn108Thr)
NM_020822.3(KCNT1):c.3317G>C (p.Arg1106Pro) rs561255614
NM_020822.3(KCNT1):c.3417C>A (p.Ser1139Arg)
NM_020822.3(KCNT1):c.3436C>T (p.Arg1146Cys) rs1471022566
NM_020822.3(KCNT1):c.3439dup (p.Gln1147fs)
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) rs1834060931
NM_020822.3(KCNT1):c.3471G>A (p.Met1157Ile) rs1085307807
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup) rs1290067674
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His) rs142875411
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys) rs1831125430
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.3584T>C (p.Ile1195Thr) rs777322392
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) rs758465935
NM_020822.3(KCNT1):c.3697A>G (p.Thr1233Ala) rs767191241
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs) rs1834589533
NM_020822.3(KCNT1):c.376A>G (p.Thr126Ala)
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.572C>G (p.Thr191Arg) rs1429039180
NM_020822.3(KCNT1):c.592A>G (p.Ser198Gly) rs2131434975
NM_020822.3(KCNT1):c.670A>G (p.Ile224Val) rs1554770959
NM_020822.3(KCNT1):c.780C>G (p.Ile260Met) rs1831666807
NM_020822.3(KCNT1):c.79T>G (p.Phe27Val)
NM_020822.3(KCNT1):c.855-10G>A rs1057521940
NM_020822.3(KCNT1):c.880C>G (p.Arg294Gly)
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077

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