ClinVar Miner

List of variants reported for Nonsyndromic cleft lip palate by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) rs59088485 0.00096
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_015058.2(VWA8):c.2451G>A (p.Thr817=) rs372532526 0.00012
NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter) rs370112959 0.00004
NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter) rs759709025 0.00001
NM_015058.2(VWA8):c.3676-7T>C rs1566417012
NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu) rs73464952

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