ClinVar Miner

List of variants in gene GUCY2D reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys) rs747951577 0.00007
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln) rs147166962 0.00004
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln) rs745426085 0.00004
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp) rs571236000 0.00003
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=) rs760472338 0.00002
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val) rs61749756 0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000180.4(GUCY2D):c.1009delinsTCTGCAGCAGCT (p.Asp337fs)
NM_000180.4(GUCY2D):c.104G>A (p.Arg35Gln)
NM_000180.4(GUCY2D):c.1252T>C (p.Tyr418His)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His) rs372005126
NM_000180.4(GUCY2D):c.1657G>C (p.Gly553Arg)
NM_000180.4(GUCY2D):c.1658G>A (p.Gly553Asp)
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1828C>T (p.Leu610Phe)
NM_000180.4(GUCY2D):c.1951A>G (p.Ile651Val)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2363G>A (p.Trp788Ter)
NM_000180.4(GUCY2D):c.2384G>C (p.Arg795Pro)
NM_000180.4(GUCY2D):c.2413-7C>A
NM_000180.4(GUCY2D):c.2480A>C (p.Tyr827Ser)
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys) rs1975925661
NM_000180.4(GUCY2D):c.2480A>T (p.Tyr827Phe)
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) rs1975925973
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2522A>G (p.Glu841Gly)
NM_000180.4(GUCY2D):c.2588A>G (p.Glu863Gly)
NM_000180.4(GUCY2D):c.2642T>C (p.Leu881Pro)
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala) rs1975935914
NM_000180.4(GUCY2D):c.2740G>A (p.Ala914Thr)
NM_000180.4(GUCY2D):c.2747T>C (p.Ile916Thr)
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
NM_000180.4(GUCY2D):c.2944+1G>T
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.4(GUCY2D):c.316C>G (p.Arg106Gly)
NM_000180.4(GUCY2D):c.3225G>T (p.Gly1075=)
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys) rs779735498
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.380C>G (p.Pro127Arg)
NM_000180.4(GUCY2D):c.671C>G (p.Ser224Cys)
NM_000180.4(GUCY2D):c.737T>C (p.Met246Thr)
NM_000180.4(GUCY2D):c.770_773dup (p.Tyr258Ter)
NM_000180.4(GUCY2D):c.7G>T (p.Ala3Ser)
NM_000180.4(GUCY2D):c.985C>T (p.Gln329Ter)

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