ClinVar Miner

List of variants studied for 46,XY sex reversal 7 by Invitae

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_021044.4(DHH):c.543C>T (p.His181=) rs117527954 0.00783
NM_021044.4(DHH):c.188C>G (p.Ala63Gly) rs142269288 0.00217
NM_021044.4(DHH):c.1134T>A (p.Thr378=) rs144444357 0.00053
NM_021044.4(DHH):c.228C>T (p.Asp76=) rs201597166 0.00048
NM_021044.4(DHH):c.192G>A (p.Glu64=) rs201464596 0.00014
NM_021044.4(DHH):c.80G>A (p.Arg27Gln) rs779682957 0.00003
NM_021044.4(DHH):c.860C>A (p.Ala287Glu) rs1033987082 0.00002
NM_021044.4(DHH):c.174C>A (p.Gly58=) rs376829299 0.00001
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
NM_021044.4(DHH):c.121G>T (p.Val41Leu)
NM_021044.4(DHH):c.151G>A (p.Gly51Ser)
NM_021044.4(DHH):c.25C>G (p.Pro9Ala)
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) rs1795489232
NM_021044.4(DHH):c.303+10G>A rs372590251
NM_021044.4(DHH):c.303+16C>G
NM_021044.4(DHH):c.303+17C>T
NM_021044.4(DHH):c.304-15T>C
NM_021044.4(DHH):c.304-17C>T
NM_021044.4(DHH):c.324C>A (p.Asn108Lys) rs750761379
NM_021044.4(DHH):c.324C>T (p.Asn108=)
NM_021044.4(DHH):c.566-8C>G
NM_021044.4(DHH):c.602C>A (p.Pro201Gln)
NM_021044.4(DHH):c.605G>A (p.Gly202Glu) rs2120824377
NM_021044.4(DHH):c.681G>T (p.Ala227=)
NM_021044.4(DHH):c.799C>G (p.Leu267Val) rs2120822817
NM_021044.4(DHH):c.804G>A (p.Thr268=)
NM_021044.4(DHH):c.822T>G (p.Phe274Leu) rs1242767279
NM_021044.4(DHH):c.980C>A (p.Pro327Gln) rs1939268481

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