ClinVar Miner

List of variants reported as pathogenic for Myhre syndrome

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1308+2T>C rs1555686624
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met) rs281875320

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