ClinVar Miner

List of variants reported as uncertain significance for Haddad syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg) rs1462459716
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131

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