List of variants reported as pathogenic for short QT syndrome by Mendelics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp)	rs199472837
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)	rs199473490
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)	rs199473422
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg)	rs199472851
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)	rs121912515
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)	rs199472856

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