ClinVar Miner

List of variants in gene CHRND reported as uncertain significance 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: 33
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HGVS dbSNP
NM_000751.3(CHRND):c.*1032C>T rs886055786
NM_000751.3(CHRND):c.*1194C>T rs778967055
NM_000751.3(CHRND):c.*1240T>C rs77032539
NM_000751.3(CHRND):c.*1313G>A rs554703726
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*145C>G rs530039427
NM_000751.3(CHRND):c.*149A>G rs114315112
NM_000751.3(CHRND):c.*196G>A rs886055783
NM_000751.3(CHRND):c.*227G>A rs766592644
NM_000751.3(CHRND):c.*379C>T rs552885486
NM_000751.3(CHRND):c.*449C>T rs886055784
NM_000751.3(CHRND):c.*580C>T rs371903548
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_000751.3(CHRND):c.*635C>T rs747270172
NM_000751.3(CHRND):c.*641C>T rs190008760
NM_000751.3(CHRND):c.*676G>A rs183259359
NM_000751.3(CHRND):c.*92C>T rs561266227
NM_000751.3(CHRND):c.*942C>T rs571263995
NM_000751.3(CHRND):c.1252+10C>T rs373581541
NM_000751.3(CHRND):c.1253-10T>G rs199508773
NM_000751.3(CHRND):c.1253-9C>T rs2853458
NM_000751.3(CHRND):c.1359C>T (p.Asn453=) rs776972228
NM_000751.3(CHRND):c.1473G>T (p.Gln491His) rs886055781
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) rs371376389

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