ClinVar Miner

List of variants in gene SMARCA4 reported as likely pathogenic by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049

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