ClinVar Miner

List of variants studied for Liang-Wang syndrome

Included ClinVar conditions (4):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993 0.00682
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001161352.2(KCNMA1):c.1441-11C>T rs79390996 0.00028
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001161352.2(KCNMA1):c.1052C>A (p.Ser351Tyr) rs2153875876
NM_001161352.2(KCNMA1):c.1057G>A (p.Val353Ile)
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.1224-326G>C rs2153793727
NM_001161352.2(KCNMA1):c.1334+1G>T rs2153792212
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) rs1555142864
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001161352.2(KCNMA1):c.2312G>A (p.Arg771Gln) rs2153158663
NM_001161352.2(KCNMA1):c.2484+1746C>T
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) rs150678882
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His) rs2152943638
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn) rs2049489016
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.379-114292C>G rs2154549804
NM_001161352.2(KCNMA1):c.379-51304del rs2154521818

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