ClinVar Miner

List of variants reported as pathogenic for autosomal recessive multiple pterygium syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
CHRNG, 1-BP DUP, 459A
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038

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