ClinVar Miner

List of variants in gene GUCY2D reported by GeneDx

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.-10+5A>G rs7406106 0.99999
NM_000180.4(GUCY2D):c.2413-221T>A rs11655487 0.61795
NM_000180.4(GUCY2D):c.2769+121T>C rs3813585 0.40665
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000180.4(GUCY2D):c.*24+59T>C rs12103519 0.15732
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=) rs56130505 0.11446
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2577-31C>T rs72841482 0.06040
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.2576+41G>C rs8068722 0.03420
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_000180.4(GUCY2D):c.1463+39G>A rs112984002 0.02392
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_000180.4(GUCY2D):c.1956+21G>T rs139731548 0.01923
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_000180.4(GUCY2D):c.3043+20G>C rs78844078 0.01374
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu) rs200586401 0.00018
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met) rs561318435 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) rs62641254 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys) rs368799458 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro) rs766944930 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000180.4(GUCY2D):c.1750-7C>G rs918147589 0.00001
NM_000180.4(GUCY2D):c.1809del (p.Ala604fs) rs754431996 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser) rs749432012 0.00001
NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu) rs61750188 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000180.4(GUCY2D):c.755G>C (p.Gly252Ala) rs1415396885 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1106G>A (p.Gly369Asp) rs2151800429
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.1410C>A (p.Phe470Leu) rs2151800760
NM_000180.4(GUCY2D):c.1542C>A (p.His514Gln) rs2151800915
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp) rs770740012
NM_000180.4(GUCY2D):c.2113+34G>A
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.2335G>T (p.Glu779Ter) rs541299023
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2687G>A (p.Ser896Asn)
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3139-1G>C rs12602083
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
NM_000180.4(GUCY2D):c.61_62inv (p.Trp21Gln)

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