ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs) rs1560165127
NM_014780.4(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.4(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.4(CUL7):c.3089del (p.Pro1030fs) rs1561881909
NM_014780.4(CUL7):c.3685C>T (p.Gln1229Ter) rs1561875767
NM_014780.4(CUL7):c.4115del (p.Glu1372fs) rs1561873941
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)
NM_022137.6(SMOC1):c.223C>T (p.Arg75Ter) rs370866589
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) rs1423415130
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter) rs1567871748

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