ClinVar Miner

List of variants in gene WNT1 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005430.4(WNT1):c.1026del (p.Glu343fs) rs727505392
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) rs387907358
NM_005430.4(WNT1):c.255del (p.Leu86fs)
NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter)
NM_005430.4(WNT1):c.506dup (p.Cys170fs) rs779969402
NM_005430.4(WNT1):c.565G>T (p.Glu189Ter) rs387907355
NM_005430.4(WNT1):c.624+4A>G rs387907354
NM_005430.4(WNT1):c.859dup (p.His287fs) rs387907353
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) rs387907356
NM_005430.4(WNT1):c.946_949dup (p.Ser317fs) rs387907357

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