ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance

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Gene type:
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Total variants: 83
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HGVS dbSNP
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x3
GRCh38/hg38 Xp11.22(chrX:53375808-53387455)x4
GRCh38/hg38 Xp11.22(chrX:53397800-53403846)x1
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_006306.3(SMC1A):c.*1028C>T rs1057515967
NM_006306.3(SMC1A):c.*1240A>G rs1057515966
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.*1559G>A rs782736361
NM_006306.3(SMC1A):c.*1961C>T rs986586627
NM_006306.3(SMC1A):c.*2050T>C rs1057515964
NM_006306.3(SMC1A):c.*2225G>A rs1047323522
NM_006306.3(SMC1A):c.*2435T>G rs782650092
NM_006306.3(SMC1A):c.*2490T>C rs1057515962
NM_006306.3(SMC1A):c.*2663C>T rs1057515961
NM_006306.3(SMC1A):c.*3305A>G rs1057515960
NM_006306.3(SMC1A):c.*348C>T rs782700234
NM_006306.3(SMC1A):c.*3671C>T rs1057515959
NM_006306.3(SMC1A):c.*3777C>G rs41315082
NM_006306.3(SMC1A):c.*3807G>A rs1057515958
NM_006306.3(SMC1A):c.*4087G>A rs1057515957
NM_006306.3(SMC1A):c.*4382A>G rs906340789
NM_006306.3(SMC1A):c.*4443G>A rs782630117
NM_006306.3(SMC1A):c.*4581T>C rs1057515955
NM_006306.3(SMC1A):c.*5352C>T rs1057515953
NM_006306.3(SMC1A):c.*5355G>A rs782143840
NM_006306.3(SMC1A):c.*5692G>A rs1057515952
NM_006306.3(SMC1A):c.*5915T>C rs1057515951
NM_006306.3(SMC1A):c.*626A>G rs1057515970
NM_006306.3(SMC1A):c.*665A>G rs1057515969
NM_006306.3(SMC1A):c.*821_*824delACAG rs1057515968
NM_006306.3(SMC1A):c.-1C>T rs797044618
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.3(SMC1A):c.1246G>A (p.Glu416Lys) rs886044873
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1254+4G>A
NM_006306.3(SMC1A):c.1254+5G>A rs1569358589
NM_006306.3(SMC1A):c.1364T>C (p.Leu455Pro) rs886044858
NM_006306.3(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1847C>T (p.Ala616Val)
NM_006306.3(SMC1A):c.1872T>G (p.Asp624Glu)
NM_006306.3(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.1996T>C (p.Trp666Arg) rs1057518859
NM_006306.3(SMC1A):c.2038C>T (p.Arg680Cys) rs1556889524
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.3(SMC1A):c.2420+5G>A rs1556889217
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.3(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.3(SMC1A):c.2709-4T>A
NM_006306.3(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048
NM_006306.3(SMC1A):c.2788C>T (p.Leu930=) rs781912370
NM_006306.3(SMC1A):c.2792A>G (p.Gln931Arg)
NM_006306.3(SMC1A):c.285C>G (p.Ala95=) rs587784414
NM_006306.3(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563
NM_006306.3(SMC1A):c.2977G>T (p.Ala993Ser)
NM_006306.3(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923
NM_006306.3(SMC1A):c.298G>C (p.Gly100Arg) rs1569359487
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_006306.3(SMC1A):c.3224A>G (p.Glu1075Gly) rs1556886027
NM_006306.3(SMC1A):c.3235A>G (p.Thr1079Ala)
NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.3(SMC1A):c.3306C>G (p.Asn1102Lys) rs797045994
NM_006306.3(SMC1A):c.3390C>T (p.Gly1130=)
NM_006306.3(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.3(SMC1A):c.3507+3G>A rs1556885809
NM_006306.3(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.3(SMC1A):c.3611A>T (p.Tyr1204Phe)
NM_006306.3(SMC1A):c.3618+10G>A rs782278656
NM_006306.3(SMC1A):c.3618+7C>T rs782267492
NM_006306.3(SMC1A):c.3638G>A (p.Ser1213Asn) rs1569351352
NM_006306.3(SMC1A):c.3692A>G (p.Asn1231Ser)
NM_006306.3(SMC1A):c.411+6C>T rs782515915
NM_006306.3(SMC1A):c.413G>A (p.Gly138Asp) rs1569359134
NM_006306.3(SMC1A):c.494C>T (p.Ala165Val)
NM_006306.3(SMC1A):c.855-15C>T rs147791932
NM_006306.3(SMC1A):c.861G>A (p.Lys287=) rs782543093
NM_006306.3(SMC1A):c.920A>G (p.His307Arg) rs1556890616

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