ClinVar Miner

List of variants in gene WNT1 studied for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_005430.4(WNT1):c.1007C>T (p.Thr336Met) rs148154047 0.00294
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg) rs200151492 0.00067
NM_005430.4(WNT1):c.*9G>A rs201599168 0.00041
NM_005430.4(WNT1):c.535C>T (p.Leu179Phe) rs377240313 0.00013
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005430.4(WNT1):c.27C>T (p.Gly9=) rs772782141 0.00001
NM_005430.4(WNT1):c.652T>G (p.Cys218Gly) rs397514702 0.00001
NM_005430.4(WNT1):c.689G>A (p.Arg230His) rs560459579 0.00001
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.23C>T (p.Pro8Leu) rs1219729580
NM_005430.4(WNT1):c.255del (p.Leu86fs)
NM_005430.4(WNT1):c.331dup (p.His111fs)
NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter)
NM_005430.4(WNT1):c.501G>C (p.Trp167Cys) rs1592257435
NM_005430.4(WNT1):c.506dup (p.Cys170fs) rs779969402
NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) rs387907355
NM_005430.4(WNT1):c.617G>A (p.Gly206Asp) rs2137624585
NM_005430.4(WNT1):c.624+4A>G rs387907354
NM_005430.4(WNT1):c.625-5C>T rs1207715560
NM_005430.4(WNT1):c.703C>T (p.Arg235Trp) rs387907359
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.937C>A (p.Arg313Ser) rs1162097828
NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) rs387907357
NM_005430.4(WNT1):c.989G>A (p.Cys330Tyr) rs1565722031

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