ClinVar Miner

List of variants in gene SMC1A reported by Ambry Genetics

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
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.1545+4A>C rs377270943 0.00129
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.1173G>A (p.Gln391=) rs147952638 0.00019
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.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00002
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.2508C>A (p.His836Gln) rs904926146 0.00001
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563 0.00001
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1581A>G (p.Gln527=)
NM_006306.4(SMC1A):c.1609del (p.Val537fs) rs1556889640
NM_006306.4(SMC1A):c.1769G>A (p.Gly590Glu)
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
NM_006306.4(SMC1A):c.1990del (p.Arg664fs) rs1556889534
NM_006306.4(SMC1A):c.2016C>T (p.Asp672=)
NM_006306.4(SMC1A):c.2038C>T (p.Arg680Cys) rs1556889524
NM_006306.4(SMC1A):c.2221C>T (p.Leu741=)
NM_006306.4(SMC1A):c.2319G>T (p.Glu773Asp)
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu) rs1556889236
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2506C>T (p.His836Tyr)
NM_006306.4(SMC1A):c.275G>C (p.Arg92Pro)
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.310G>A (p.Glu104Lys) rs2075726145
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His) rs1556886034
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.3528G>A (p.Glu1176=)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3578T>G (p.Phe1193Cys) rs869312954
NM_006306.4(SMC1A):c.3638G>A (p.Ser1213Asn) rs1569351352
NM_006306.4(SMC1A):c.3657C>T (p.Asp1219=)
NM_006306.4(SMC1A):c.376A>G (p.Ile126Val)
NM_006306.4(SMC1A):c.413G>A (p.Gly138Asp) rs1569359134
NM_006306.4(SMC1A):c.834G>A (p.Gln278=) rs1569358988
NM_006306.4(SMC1A):c.981G>A (p.Lys327=)

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