List of variants studied for Curry-Hall syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_147127.5(EVC2):c.3793del (p.Leu1265fs)	rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)	rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)	rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter)	rs1560121645

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