ClinVar Miner

List of variants in gene CHRNG reported as likely benign for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*496A>G rs72991937
NM_005199.5(CHRNG):c.*568C>T rs72991939
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005199.5(CHRNG):c.*77T>C rs11690038
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489
NM_005199.5(CHRNG):c.507-13C>T rs2853462
NM_005199.5(CHRNG):c.921-12C>T rs13018423

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