ClinVar Miner

List of variants in gene ARHGAP31 reported as pathogenic for Adams-Oliver syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) rs387907031
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) rs1553768038
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) rs1559999373

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