ClinVar Miner

List of variants in gene SMC1A reported as likely benign for Congenital muscular hypertrophy-cerebral syndrome

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Total variants: 68
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HGVS dbSNP
NM_001281463.1(SMC1A):c.-150C>T rs781999328
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) rs140585416
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2722C>T (p.Leu908=) rs781912370
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.3525C>T (p.Ala1175=) rs146216425
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) rs28997583
NM_006306.4(SMC1A):c.*3087G>A
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=)
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=)
NM_006306.4(SMC1A):c.1254+8A>G
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=)
NM_006306.4(SMC1A):c.1338-4G>A
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=)
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=)
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=)
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=)
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597
NM_006306.4(SMC1A):c.1912-4G>T
NM_006306.4(SMC1A):c.192G>C (p.Leu64=)
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=)
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=)
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=)
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=)
NM_006306.4(SMC1A):c.2421-4A>G
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=)
NM_006306.4(SMC1A):c.2505A>G (p.Val835=)
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=)
NM_006306.4(SMC1A):c.27T>C (p.Ile9=)
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=)
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=)
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=)
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985
NM_006306.4(SMC1A):c.3437+10A>T rs782079503
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)
NM_006306.4(SMC1A):c.3618+8G>A
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205
NM_006306.4(SMC1A):c.402C>T (p.Leu134=)
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)
NM_006306.4(SMC1A):c.453G>A (p.Arg151=)
NM_006306.4(SMC1A):c.462A>G (p.Leu154=)
NM_006306.4(SMC1A):c.495G>A (p.Ala165=)
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.669G>C (p.Leu223=)
NM_006306.4(SMC1A):c.675C>T (p.Leu225=)
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)

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