List of variants in gene GUCY2D reported as pathogenic for Cone-rod dystrophy 6; Leber congenital amaurosis 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)	rs756044745	0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	rs1200134985	0.00003
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	rs61749668	0.00003
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)	rs61750171	0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)	rs769818541	0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)	rs756730335	0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)	rs61749676	0.00001
NM_000180.4(GUCY2D):c.1566+1G>A	rs1348467293	0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)	rs1290420698	0.00001
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)	rs776817542	0.00001
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)	rs2545423946	0.00001
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)	rs61750161	0.00001
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)	rs1424348888	0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	rs750889782	0.00001
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)	rs765910207	0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)	rs61750172	0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	rs1555635778	0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)	rs201587670	0.00001
NM_000180.4(GUCY2D):c.3224+1G>C	rs757823463	0.00001
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)	rs281865409	0.00001
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)	rs2545418010	0.00001
NC_000017.10:g.(?_7906366)_(7911370_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.10:g.(?_7919041)_(7919848_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs)	rs1451359371
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)	rs2545418921
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)	rs2545420133
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)	rs770255396
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)	rs2545420192
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)	rs2545420235
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)	rs2545420239
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)	rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	rs61749679
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs)	rs2151800620
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)	rs55916957
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)	rs1275955653
NM_000180.4(GUCY2D):c.1431del (p.Leu478fs)
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)	rs1598146589
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)	rs1567956946
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)	rs1168076308
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)	rs1349155167
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)	rs2545417186
NM_000180.4(GUCY2D):c.1724del (p.Pro575fs)
NM_000180.4(GUCY2D):c.175del (p.Leu59fs)	rs2151799287
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)	rs794727952
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)	rs2545423955
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)	rs2545423992
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)	rs1975665578
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)	rs2545417489
NM_000180.4(GUCY2D):c.1957-2A>G	rs945734402
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)	rs61750164
NM_000180.4(GUCY2D):c.2113+1G>A	rs2545424362
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)	rs2151802829
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)	rs747951577
NM_000180.4(GUCY2D):c.2272C>T (p.Gln758Ter)
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)	rs772242251
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)	rs772242251
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)	rs2545425374
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)	rs1975911430
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)	rs1338490917
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)	rs2545426022
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.2513G>C (p.Arg838Pro)	rs61750173
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)	rs1598150539
NM_000180.4(GUCY2D):c.2549_2550del (p.Asp850fs)
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)	rs2545426279
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)	rs1567961697
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs)	rs1598150748
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)	rs2545426334
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)	rs2545426389
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)	rs1975937052
NM_000180.4(GUCY2D):c.2770-2A>G	rs1975943416
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs)	rs2151803659
NM_000180.4(GUCY2D):c.2899del (p.His967fs)	rs61750183
NM_000180.4(GUCY2D):c.2944+1del	rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)	rs1395017892
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)	rs1975957350
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)	rs1975957618
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)	rs868612148
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu)	rs1975959442
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)	rs866511152
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)	rs2545427510
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)	rs2545417716
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)	rs1975964112
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)	rs61750194
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)	rs2545427576
NM_000180.4(GUCY2D):c.442del (p.Val148fs)	rs2545417991
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs)	rs2151799452
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)	rs2545417252
NM_000180.4(GUCY2D):c.564del (p.Ala189fs)	rs2151799492
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)	rs1308509257
NM_000180.4(GUCY2D):c.66G>A (p.Trp22Ter)
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)	rs2151799567
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)	rs2545418608
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)	rs143745703
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)	rs2545418704
NM_000180.4(GUCY2D):c.914del (p.His305fs)	rs1598144694
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)	rs61749663
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)	rs1975693728
NM_000180.4(GUCY2D):c.941dup (p.His314fs)	rs1195374954

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