ClinVar Miner

List of variants in gene combination CHRNG, TIGD1 reported as benign for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611

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