ClinVar Miner

List of variants reported as uncertain significance for Disorder of sexual differentiation

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_005491.5(MAMLD1):c.*690C>T rs927968522 0.00012
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_002256.4(KISS1):c.283C>T (p.Pro95Ser) rs777274044 0.00004
NM_001127496.3(SPRY4):c.778C>A (p.Leu260Met) rs1759048117 0.00001
NM_001395413.1(POR):c.967T>C (p.Tyr323His) rs782419727 0.00001
NM_003107.3(SOX4):c.824C>T (p.Ala275Val) rs1451258504 0.00001
NM_005491.5(MAMLD1):c.20G>A (p.Arg7Gln) rs1557404746 0.00001
NM_021044.4(DHH):c.913G>A (p.Gly305Arg) rs1939270334 0.00001
NM_173648.4(CCDC141):c.1979G>A (p.Arg660Gln) rs752970629 0.00001
NM_000141.5(FGFR2):c.1132A>G (p.Ile378Val) rs2134229231
NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp) rs1583749201
NM_000823.4(GHRHR):c.812+4A>C rs2128598348
NM_001126128.2(PROK2):c.96+4A>G rs2108200139
NM_001349338.3(FOXP1):c.181-18031T>C rs2107918736
NM_001374353.1(GLI2):c.1238C>G (p.Ala413Gly) rs2105036633
NM_003244.4(TGIF1):c.16+1719dup rs11571509
NM_005189.3(CBX2):c.117-3C>T rs1906989698
NM_005189.3(CBX2):c.404G>A (p.Arg135Gln) rs781881482
NM_005921.2(MAP3K1):c.3557A>G (p.Glu1186Gly) rs769063326
NM_005921.2(MAP3K1):c.374C>G (p.Thr125Ser) rs1581199357
NM_006261.5(PROP1):c.302G>T (p.Ser101Ile) rs2113063532
NM_016373.4(WWOX):c.1015A>T (p.Thr339Ser) rs1429449710
NM_017514.5(PLXNA3):c.788_797del (p.Val263fs) rs2148244621
NM_024426.6(WT1):c.1437A>G (p.Thr479=) rs1851829640
NM_130806.5(RXFP2):c.1904C>T (p.Ala635Val) rs2138467298
NM_148963.4(GPRC6A):c.425C>T (p.Ala142Val) rs2114599532
NM_198391.3(FLRT3):c.182C>G (p.Thr61Arg) rs1568559330

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