ClinVar Miner

List of variants in gene GUCY2D reported as not provided by Retina International

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
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.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
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.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
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.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.289G>C (p.Glu97Gln) rs61749667 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 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.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met) rs61750174 0.00001
NM_000180.4(GUCY2D):c.2837C>T (p.Ala946Val) rs61750180 0.00001
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) rs61750182 0.00001
NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter) rs61750192 0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile) rs281865409 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1026+172del rs61750197
NM_000180.4(GUCY2D):c.1084G>T (p.Ala362Ser) rs61749677
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1379-28A>G rs61749680
NM_000180.4(GUCY2D):c.1424_1431dup (p.Leu478fs) rs61749681
NM_000180.4(GUCY2D):c.1566+2T>C rs61749683
NM_000180.4(GUCY2D):c.1615A>G (p.Ile539Val) rs61749753
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) rs63749078
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.1957-1G>A rs61749759
NM_000180.4(GUCY2D):c.1957-1G>T rs61749759
NM_000180.4(GUCY2D):c.1957G>A (p.Gly653Arg) rs61750160
NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs) rs61750163
NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys) rs61750164
NM_000180.4(GUCY2D):c.2237A>G (p.Tyr746Cys) rs61750166
NM_000180.4(GUCY2D):c.2248G>T (p.Glu750Ter) rs61750167
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2317A>C (p.Met773Leu) rs61750169
NM_000180.4(GUCY2D):c.2346C>A (p.Leu782=) rs61750170
NM_000180.4(GUCY2D):c.2384G>T (p.Arg795Leu) rs61750171
NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp) rs28933695
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2566A>G (p.Met856Val) rs61750175
NM_000180.4(GUCY2D):c.2572C>T (p.Pro858Ser) rs61750176
NM_000180.4(GUCY2D):c.2745C>T (p.Ile915=) rs61750177
NM_000180.4(GUCY2D):c.2749G>C (p.Gly917Arg) rs61750178
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2899del (p.His967fs) rs61750183
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2951G>A (p.Cys984Tyr) rs61750186
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) rs281865408
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3055C>A (p.His1019Asn) rs61750190
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) rs281865411
NM_000180.4(GUCY2D):c.3108G>T (p.Gln1036His) rs61750193
NM_000180.4(GUCY2D):c.3118C>G (p.Arg1040Gly) rs61750194
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) rs61750194
NM_000180.4(GUCY2D):c.314G>A (p.Cys105Tyr) rs61749669
NM_000180.4(GUCY2D):c.3206del (p.Pro1069fs) rs61750196
NM_000180.4(GUCY2D):c.3237_3238insCAAC (p.Gly1080fs) rs281865412
NM_000180.4(GUCY2D):c.3282G>T (p.Leu1094=) rs281865413
NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala) rs61750198
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.577C>T (p.Leu193=) rs61750199
NM_000180.4(GUCY2D):c.622del (p.Arg208fs) rs61749671
NM_000180.4(GUCY2D):c.779T>C (p.Leu260Pro) rs61749672
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000180.4(GUCY2D):c.974T>C (p.Leu325Pro) rs61749675

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