List of variants reported as likely pathogenic for Sheldon-hall syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.1581+1G>A	rs1350968647	0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)	rs121913623	0.00001
NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr)	rs2142404938
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)	rs1597482824
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)
NM_002470.4(MYH3):c.782C>T (p.Ser261Phe)	rs1597490381
NM_003282.4(TNNI2):c.454-2A>G
NM_003282.4(TNNI2):c.486G>T (p.Arg162Ser)
NM_003282.4(TNNI2):c.496G>T (p.Glu166Ter)
NM_003282.4(TNNI2):c.503_505dup (p.Ser169Ter)
NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)	rs1589797083
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)	rs199474801
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)	rs797046046
NM_003289.4(TPM2):c.307C>A (p.Gln103Lys)	rs1587959107
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser)	rs199474721
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	rs121434638

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