ClinVar Miner

List of variants in gene SMC1A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00092
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00055
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00049
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006306.4(SMC1A):c.2863-8C>T rs782738954 0.00005
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) rs781957759 0.00001
NM_006306.4(SMC1A):c.2191C>T (p.Leu731=) rs782301753 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 0.00001
NM_006306.4(SMC1A):c.381C>T (p.Leu127=) rs782546548 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.-10C>T
NM_006306.4(SMC1A):c.1475A>G (p.Gln492Arg) rs1556890139
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1692dup (p.Gly565fs) rs2146600016
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu) rs1369059288
NM_006306.4(SMC1A):c.1876_1897del (p.Arg626fs) rs2146599723
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
NM_006306.4(SMC1A):c.2049G>A (p.Glu683=)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2353G>T (p.Gly785Cys)
NM_006306.4(SMC1A):c.2379G>T (p.Glu793Asp)
NM_006306.4(SMC1A):c.2396G>A (p.Arg799Gln)
NM_006306.4(SMC1A):c.2422T>C (p.Leu808=)
NM_006306.4(SMC1A):c.244A>G (p.Met82Val) rs2146606672
NM_006306.4(SMC1A):c.2478C>T (p.Asn826=)
NM_006306.4(SMC1A):c.2482_2489del (p.Leu828fs)
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=) rs1602405773
NM_006306.4(SMC1A):c.2647G>A (p.Glu883Lys) rs2075651886
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.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3589delinsAACTCTA (p.Ala1197delinsAsnSerThr) rs2146581274
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006306.4(SMC1A):c.654G>A (p.Arg218=) rs2146605426
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408

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