List of variants studied for Short-rib thoracic dysplasia 7 with or without polydactyly by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T	rs1191779	0.96807
NM_020779.4(WDR35):c.25-46G>A	rs3731663	0.57316
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)	rs6741091	0.45165
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	rs1191778	0.31071
NM_020779.4(WDR35):c.3121+12A>C	rs28502265	0.10587
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)	rs1060742	0.08036

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