ClinVar Miner

List of variants in gene SMC1A reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=) rs782379340 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=) rs1388761806 0.00001
NM_006306.4(SMC1A):c.1581A>G (p.Gln527=)
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
NM_006306.4(SMC1A):c.2016C>T (p.Asp672=)
NM_006306.4(SMC1A):c.2221C>T (p.Leu741=)
NM_006306.4(SMC1A):c.3528G>A (p.Glu1176=)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3657C>T (p.Asp1219=)
NM_006306.4(SMC1A):c.834G>A (p.Gln278=) rs1569358988
NM_006306.4(SMC1A):c.981G>A (p.Lys327=)

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