ClinVar Miner

List of variants in gene SMC1A studied for not provided

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Total variants: 66
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HGVS dbSNP
NM_001281463.1(SMC1A):c.-213C>T rs797044618
NM_001281463.1(SMC1A):c.1126C>T (p.Arg376Ter) rs886041902
NM_001281463.1(SMC1A):c.1180G>A (p.Glu394Lys) rs886044873
NM_001281463.1(SMC1A):c.1213G>A (p.Glu405Lys) rs886044851
NM_001281463.1(SMC1A):c.1298T>C (p.Leu433Pro) rs886044858
NM_001281463.1(SMC1A):c.1409A>G (p.Gln470Arg) rs1556890139
NM_001281463.1(SMC1A):c.1429C>T (p.Arg477Ter) rs1556890135
NM_001281463.1(SMC1A):c.1438G>A (p.Glu480Lys) rs1057522040
NM_001281463.1(SMC1A):c.1768G>A (p.Ala590Thr) rs727504164
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2206C>T (p.Arg736Ter) rs1556889269
NM_001281463.1(SMC1A):c.221G>C (p.Arg74Pro) rs781817340
NM_001281463.1(SMC1A):c.2285T>C (p.Ile762Thr) rs387906702
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001281463.1(SMC1A):c.2381G>A (p.Arg794His) rs886044819
NM_001281463.1(SMC1A):c.245A>G (p.Glu82Gly) rs1556891059
NM_001281463.1(SMC1A):c.2496+1G>A rs1556888550
NM_001281463.1(SMC1A):c.2703dup (p.Ser902fs) rs1556888010
NM_001281463.1(SMC1A):c.2722C>T (p.Leu908=) rs781912370
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.2807del (p.Gln936fs) rs1556887777
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3158A>G (p.Glu1053Gly) rs1556886027
NM_001281463.1(SMC1A):c.3276C>A (p.Asn1092Lys) rs1057518054
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.345+6C>T rs782515915
NM_001281463.1(SMC1A):c.3502A>G (p.Lys1168Glu) rs1057524798
NM_001281463.1(SMC1A):c.549+5G>A rs1064795049
NM_001281463.1(SMC1A):c.556C>G (p.Arg186Gly) rs1057520375
NM_001281463.1(SMC1A):c.789-2A>G rs1569358774
NM_001281463.1(SMC1A):c.795G>A (p.Lys265=) rs782543093
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048
NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val)
NM_006306.4(SMC1A):c.1337+9C>T rs376455825
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)
NM_006306.4(SMC1A):c.2059-9T>C rs782041729
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=) rs1602405773
NM_006306.4(SMC1A):c.2647G>A (p.Glu883Lys)
NM_006306.4(SMC1A):c.2688G>A (p.Lys896=) rs1602405737
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=) rs782574044
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.2863-8C>T rs782738954
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.3135T>C (p.Phe1045=) rs1602398671
NM_006306.4(SMC1A):c.3371C>T (p.Pro1124Leu) rs1602398439
NM_006306.4(SMC1A):c.3437+10A>T rs782079503
NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=) rs1602397790
NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=) rs1602397606
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205
NM_006306.4(SMC1A):c.381C>T (p.Leu127=)
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006306.4(SMC1A):c.846G>A (p.Lys282=) rs1602413372
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248

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