ClinVar Miner

List of variants in gene SMC1A studied for not provided

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Total variants: 29
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.2787_2790del (p.Ser929fs) rs863225458
NM_006306.3(SMC1A):c.-1C>T rs797044618
NM_006306.3(SMC1A):c.1192C>T (p.Arg398Ter) rs886041902
NM_006306.3(SMC1A):c.1246G>A (p.Glu416Lys) rs886044873
NM_006306.3(SMC1A):c.1279G>A (p.Glu427Lys) rs886044851
NM_006306.3(SMC1A):c.1364T>C (p.Leu455Pro) rs886044858
NM_006306.3(SMC1A):c.1475A>G (p.Gln492Arg) rs1556890139
NM_006306.3(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.3(SMC1A):c.1504G>A (p.Glu502Lys) rs1057522040
NM_006306.3(SMC1A):c.2272C>T (p.Arg758Ter) rs1556889269
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.3(SMC1A):c.2562+1G>A rs1556888550
NM_006306.3(SMC1A):c.2769dup (p.Ser924fs) rs1556888010
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006306.3(SMC1A):c.2873del (p.Gln958fs) rs1556887777
NM_006306.3(SMC1A):c.287G>C (p.Arg96Pro)
NM_006306.3(SMC1A):c.311A>G (p.Glu104Gly) rs1556891059
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.3(SMC1A):c.3224A>G (p.Glu1075Gly) rs1556886027
NM_006306.3(SMC1A):c.3342C>A (p.Asn1114Lys) rs1057518054
NM_006306.3(SMC1A):c.3568A>G (p.Lys1190Glu) rs1057524798
NM_006306.3(SMC1A):c.411+6C>T rs782515915
NM_006306.3(SMC1A):c.615+5G>A rs1064795049
NM_006306.3(SMC1A):c.622C>G (p.Arg208Gly) rs1057520375
NM_006306.3(SMC1A):c.855-2A>G rs1569358774
NM_006306.3(SMC1A):c.861G>A (p.Lys287=) rs782543093

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