ClinVar Miner

List of variants reported by Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter) rs370866589 0.00003
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) rs1976175724 0.00001
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) rs1423415130 0.00001
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg) rs1361897950
NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs) rs1560165127
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys) rs1828087195
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1215del (p.Gln406fs) rs1828107536
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) rs749952755
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.1887+2T>A rs1828226013
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) rs1828356952
NM_003995.4(NPR2):c.2870G>A (p.Arg957His) rs1828565145
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly) rs1828609114
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del) rs1828637001
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys) rs758478717
NM_003995.4(NPR2):c.329G>A (p.Arg110His) rs1827825533
NM_003995.4(NPR2):c.422G>A (p.Arg141His) rs1827828857
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg) rs1440373349
NM_003995.4(NPR2):c.748del (p.Tyr250fs) rs1827867580
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp) rs915823109
NM_003995.4(NPR2):c.873+3A>G rs1827874317
NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) rs137853933
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.5(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) rs1561881909
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) rs1561875767
NM_014780.5(CUL7):c.4115del (p.Glu1372fs) rs1561873941
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) rs1764489246
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del rs760929207
NM_018238.4(AGK):c.1215dup (p.Phe406fs) rs1587181981
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp) rs781358829
NM_025000.4(DCAF17):c.270dup (p.Cys91fs) rs879253799
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter) rs1567871748
NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter) rs1566078009

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