ClinVar Miner

List of variants in gene SMC1A reported as likely benign for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
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.1912-14C>T rs375109064 0.00046
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.1098G>A (p.Thr366=) rs140585416 0.00015
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793

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