List of variants reported as pathogenic for Myhre syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	rs397518413	0.00001
NM_005359.6(SMAD4):c.1308+2T>C	rs1555686624
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)	rs281875320
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
R496C

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