List of variants reported as uncertain significance for polydactyly-syndactyly-triphalangism by Baylor Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)	rs142349647	0.00085
NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met)	rs201346406	0.00023
NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val)	rs748992677	0.00010
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)	rs367845452	0.00009
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)	rs185084650	0.00004
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)	rs201413825	0.00004
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln)	rs1050543850	0.00001
NM_198525.3(KIF7):c.214C>G (p.Gln72Glu)	rs1201439891	0.00001
NM_198525.3(KIF7):c.721G>T (p.Gly241Cys)	rs1004531343	0.00001
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)	rs1226794909
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	rs1597229404
NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln)	rs1017133697
NM_017777.4(MKS1):c.1491-4G>A	rs1555596758
NM_152515.5(CKAP2L):c.199C>A (p.Pro67Thr)	rs1442633705
NM_153704.6(TMEM67):c.2339T>C (p.Leu780Ser)
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr)	rs1563673490

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