List of variants reported for Short rib-polydactyly syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	rs1360128571	0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	rs200649783	0.00003
NM_001102564.3(IFT43):c.2T>A (p.Met1Lys)	rs769724508	0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)	rs886037869	0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs)	rs886044119	0.00001
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	rs1555369050
NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr)	rs547679833
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del)	rs1555266475
NM_014920.5(CILK1):c.238G>A (p.Glu80Lys)	rs868310475
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	rs1037828930
NM_016004.5(IFT52):c.878del (p.Leu293fs)	rs886037870
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys)	rs1558342399
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter)	rs1050086118

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