ClinVar Miner

List of variants studied for Myhre syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 9
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HGVS dbSNP
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.5(SMAD4):c.1219G>C (p.Val407Leu) rs147621330
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.5(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.5(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.5(SMAD4):c.566G>A (p.Arg189His) rs759288477
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051

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