ClinVar Miner

List of variants reported as pathogenic for Barber-Say syndrome

Included ClinVar conditions (1):

Barber-Say syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)	rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala)	rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup)	rs869320750

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