ClinVar Miner

List of variants in gene WNT1 studied for Osteogenesis imperfecta type 15

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005430.4(WNT1):c.1026del (p.Glu343fs) rs727505392
NM_005430.4(WNT1):c.104+4_104+44del rs1555178899
NM_005430.4(WNT1):c.1060del (p.His354fs) rs1233798164
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) rs387907358
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly) rs1435433748
NM_005430.4(WNT1):c.216dup (p.Arg73fs) rs1277101629
NM_005430.4(WNT1):c.255del (p.Leu86fs) rs778294620
NM_005430.4(WNT1):c.331dup (p.His111fs) rs2498946534
NM_005430.4(WNT1):c.437G>A (p.Gly146Asp)
NM_005430.4(WNT1):c.437G>T (p.Gly146Val) rs2498947344
NM_005430.4(WNT1):c.506dup (p.Cys170fs) rs779969402
NM_005430.4(WNT1):c.521T>C (p.Ile174Thr) rs758928266
NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) rs387907355
NM_005430.4(WNT1):c.589C>A (p.Leu197Ile)
NM_005430.4(WNT1):c.617G>A (p.Gly206Asp) rs2137624585
NM_005430.4(WNT1):c.624+4A>G rs387907354
NM_005430.4(WNT1):c.750C>G (p.Phe250Leu)
NM_005430.4(WNT1):c.859dup (p.His287fs) rs387907353
NM_005430.4(WNT1):c.860dup (p.His287fs) rs2137625424
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) rs387907356
NM_005430.4(WNT1):c.893T>G (p.Phe298Cys) rs2137625459
NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) rs387907357

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