ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by GeneDx

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) rs782606119 0.00007
NM_006306.4(SMC1A):c.109+558C>T rs369163595 0.00004
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.1254+5G>A rs1569358589 0.00001
NM_006306.4(SMC1A):c.2011G>A (p.Val671Ile) rs2520927572 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.479G>A (p.Arg160His) rs2075720699 0.00001
NM_006306.4(SMC1A):c.1084G>A (p.Gly362Ser) rs2520957067
NM_006306.4(SMC1A):c.1255G>A (p.Ala419Thr) rs2146602550
NM_006306.4(SMC1A):c.1393A>T (p.Met465Leu)
NM_006306.4(SMC1A):c.1462C>T (p.Arg488Cys)
NM_006306.4(SMC1A):c.1490A>G (p.Gln497Arg) rs2520942683
NM_006306.4(SMC1A):c.1526G>A (p.Arg509His)
NM_006306.4(SMC1A):c.1569C>G (p.Cys523Trp) rs2146600104
NM_006306.4(SMC1A):c.1604C>T (p.Thr535Ile)
NM_006306.4(SMC1A):c.1655C>T (p.Thr552Ile) rs2146600042
NM_006306.4(SMC1A):c.1661_1672del (p.Arg554_Ile557del) rs2520930361
NM_006306.4(SMC1A):c.1666T>C (p.Cys556Arg) rs2146600036
NM_006306.4(SMC1A):c.1757G>A (p.Arg586Gln)
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe) rs2520929186
NM_006306.4(SMC1A):c.185G>A (p.Arg62Gln) rs2146606711
NM_006306.4(SMC1A):c.1862A>G (p.Asn621Ser) rs2146599756
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1879C>A (p.Arg627Ser) rs1429718803
NM_006306.4(SMC1A):c.1971T>A (p.Ser657Arg) rs2146599603
NM_006306.4(SMC1A):c.2000A>T (p.Asp667Val) rs2520927608
NM_006306.4(SMC1A):c.2096G>A (p.Arg699His)
NM_006306.4(SMC1A):c.2137A>C (p.Lys713Gln)
NM_006306.4(SMC1A):c.2144C>G (p.Ser715Cys)
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile) rs2520926054
NM_006306.4(SMC1A):c.2228A>G (p.Asn743Ser) rs2146598457
NM_006306.4(SMC1A):c.2313+3T>G rs782384493
NM_006306.4(SMC1A):c.2396G>A (p.Arg799Gln) rs2520919459
NM_006306.4(SMC1A):c.2452G>A (p.Gly818Ser) rs2146595526
NM_006306.4(SMC1A):c.2471A>G (p.Glu824Gly) rs2146595510
NM_006306.4(SMC1A):c.2563-3C>G rs372708074
NM_006306.4(SMC1A):c.2563-8G>A rs2146593680
NM_006306.4(SMC1A):c.2575C>T (p.His859Tyr) rs2520893023
NM_006306.4(SMC1A):c.2695G>A (p.Gly899Arg) rs1254835093
NM_006306.4(SMC1A):c.2698G>A (p.Gly900Ser) rs2146593579
NM_006306.4(SMC1A):c.2705A>G (p.Asn902Ser)
NM_006306.4(SMC1A):c.2715G>A (p.Met905Ile) rs2520891691
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His) rs2520891639
NM_006306.4(SMC1A):c.2887G>A (p.Val963Met) rs2146592426
NM_006306.4(SMC1A):c.2920G>C (p.Ala974Pro) rs2520884801
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala) rs2146606564
NM_006306.4(SMC1A):c.3094G>A (p.Glu1032Lys)
NM_006306.4(SMC1A):c.3110A>G (p.Lys1037Arg) rs2146583109
NM_006306.4(SMC1A):c.3224A>G (p.Glu1075Gly) rs1556886027
NM_006306.4(SMC1A):c.3268C>T (p.Arg1090Cys) rs2146582558
NM_006306.4(SMC1A):c.3356G>A (p.Gly1119Glu)
NM_006306.4(SMC1A):c.3374T>C (p.Met1125Thr) rs2146582425
NM_006306.4(SMC1A):c.3431T>C (p.Ile1144Thr)
NM_006306.4(SMC1A):c.3671C>A (p.Pro1224Gln) rs2520809740
NM_006306.4(SMC1A):c.3682C>A (p.Pro1228Thr)
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro) rs782606119
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln) rs2520960966
NM_006306.4(SMC1A):c.855-13C>A
NM_006306.4(SMC1A):c.869A>G (p.Glu290Gly)
NM_006306.4(SMC1A):c.884G>A (p.Arg295Gln)
NM_006306.4(SMC1A):c.986G>T (p.Arg329Leu) rs782449052

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