ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000751.3(CHRND):c.*1025A>G rs115132742
NM_000751.3(CHRND):c.*424C>T rs4973046
NM_000751.3(CHRND):c.*52A>G rs2767
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.*885T>C rs1004175
NM_000751.3(CHRND):c.1047+9T>C rs3762528
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_001039523.3(CHRNA1):c.*426C>A rs115375214
NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) rs2229957
NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) rs6739001
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
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.445G>A (p.Ala149Thr) rs2289080
NM_005199.5(CHRNG):c.507-13C>T rs2853462
NM_005199.5(CHRNG):c.921-12C>T rs13018423

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