ClinVar Miner

List of variants in gene CHRNA1 reported as uncertain significance for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001039523.3(CHRNA1):c.*275A>G rs886055148
NM_001039523.3(CHRNA1):c.*288G>A rs564090863
NM_001039523.3(CHRNA1):c.*358C>T rs886055147
NM_001039523.3(CHRNA1):c.*411G>A rs560280191
NM_001039523.3(CHRNA1):c.*414T>A rs886055146
NM_001039523.3(CHRNA1):c.*422G>T rs184095877
NM_001039523.3(CHRNA1):c.*461A>T rs542750994
NM_001039523.3(CHRNA1):c.-37A>G rs182459320
NM_001039523.3(CHRNA1):c.1077+9G>A rs368959759
NM_001039523.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_001039523.3(CHRNA1):c.1308G>T (p.Glu436Asp) rs61737716
NM_001039523.3(CHRNA1):c.1322C>T (p.Ala441Val) rs367751078
NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) rs17838545
NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) rs146899588
NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) rs151081792
NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) rs771587252
NM_001039523.3(CHRNA1):c.224G>A (p.Arg75His) rs147488907
NM_001039523.3(CHRNA1):c.342A>G (p.Pro114=) rs886055150
NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) rs140268343
NM_001039523.3(CHRNA1):c.680G>A (p.Arg227Gln) rs769337073
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039523.3(CHRNA1):c.780C>A (p.Ile260=) rs143252724
NM_001039523.3(CHRNA1):c.854-12_854-11del rs1491478953
NM_001039523.3(CHRNA1):c.854-12del rs67309103
NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) rs374093236

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