ClinVar Miner

List of variants reported as likely pathogenic for Nonsyndromic cleft lip palate

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Total variants: 10
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HGVS dbSNP
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452
NM_015058.2(VWA8):c.2451G>A (p.Thr817=) rs372532526
NM_015058.2(VWA8):c.3676-7T>C rs1566417012
NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter) rs370112959
NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu) rs73464952
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882
NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter) rs759709025

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