ClinVar Miner

List of variants reported as pathogenic by Genetics Institute, Tel Aviv Sourasky Medical Center

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001037132.4(NRCAM):c.2557C>T (p.Arg853Cys) rs150373689 0.00031
NM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser) rs201033539 0.00030
NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr) rs139634064 0.00019
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr) rs763701580 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs) rs747569790 0.00003
NM_001037132.4(NRCAM):c.2647-2A>G rs1298979445 0.00001
NM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp) rs772993703 0.00001
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000430.4(PAFAH1B1):c.368T>A (p.Met123Lys) rs1334642659
NM_000548.5(TSC2):c.481+1G>A rs45488500
NM_001037132.4(NRCAM):c.164A>G (p.Asp55Gly) rs1413634373
NM_001037132.4(NRCAM):c.2297_2302delinsTC (p.Thr766fs) rs2153369022
NM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp) rs2062777274
NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter) rs2153275538
NM_001037132.4(NRCAM):c.331G>T (p.Glu111Ter) rs140770274
NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro) rs2153741176
NM_001042475.3(CEP85L):c.232+2T>A rs2115322443
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001374353.1(GLI2):c.2338del (p.Thr780fs) rs2105085199
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004859.4(CLTC):c.4739A>G (p.Asp1580Gly) rs2143602393
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) rs1942169629
NM_006587.4(CORIN):c.684dup (p.Met229fs) rs756399499
NM_207037.2(TCF12):c.207del (p.Tyr70fs) rs2141725707

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