ClinVar Miner

List of variants reported as likely pathogenic by Istanbul Faculty of Medicine, Istanbul University

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys) rs1355685453 0.00001
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val) rs1555574249
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val) rs2144556146
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys) rs2144542487
NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp) rs2115957148
NM_000089.4(COL1A2):c.3159+1G>A
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000155.4(GALT):c.533T>G (p.Met178Arg)
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) rs2046934971
NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) rs2046932414
NM_000520.6(HEXA):c.786C>G (p.His262Gln)
NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val) rs1802414251
NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) rs1798243790
NM_001024630.4(RUNX2):c.423+2del rs1798262516
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) rs1203066173
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) rs2097481554
NM_003836.7(DLK1):c.357C>G (p.Tyr119Ter)
NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro)
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)
NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)

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