ClinVar Miner

List of variants studied for Smith-Fineman-Myers syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_138270.4(ATRX):c.370+2746del rs1603240572
Single allele

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