List of variants studied for Sheldon-hall syndrome by OMIM

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		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)	rs121913623	0.00001
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)	rs121913621
NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys)	rs1567559027
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)	rs121913622
NM_002470.4(MYH3):c.2590_2592del (p.Leu864del)	rs879255230
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)	rs121913619
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)	rs104894312
NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe)	rs1589797063
NM_003282.4(TNNI2):c.496GAG[1] (p.Glu167del)	rs199474800
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)	rs104894311
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	rs121434638

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