List of variants in gene SMC1A reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1192C>T (p.Arg398Ter)	rs886041902
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)	rs587784403
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	rs122454123
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)	rs1556890135
NM_006306.4(SMC1A):c.1504G>A (p.Glu502Lys)	rs1057522040
NM_006306.4(SMC1A):c.1692dup (p.Gly565fs)	rs2146600016
NM_006306.4(SMC1A):c.1813_1814del (p.Ile605fs)	rs2146599783
NM_006306.4(SMC1A):c.2069del (p.Lys690fs)	rs2146599371
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)	rs2075686139
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	rs587784409
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)	rs1556889269
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	rs1569356550
NM_006306.4(SMC1A):c.2482_2489del (p.Leu828fs)
NM_006306.4(SMC1A):c.2562+1G>A	rs1556888550
NM_006306.4(SMC1A):c.2769dup (p.Ser924fs)	rs1556888010
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	rs863225458
NM_006306.4(SMC1A):c.2873del (p.Gln958fs)	rs1556887777
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	rs587784416
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)	rs1057521921
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)	rs2075586377
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs)	rs1602418853
NM_006306.4(SMC1A):c.622C>G (p.Arg208Gly)	rs1057520375
NM_006306.4(SMC1A):c.793_795del (p.Glu265del)	rs1602413408

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