ClinVar Miner

List of variants reported as likely pathogenic by Clinical Genomics Program, Stanford Medicine

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Total variants: 27
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HGVS dbSNP
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter)
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000460.4(THPO):c.13+2T>C
NM_000548.5(TSC2):c.225+2T>C
NM_001005388.3(NFASC):c.2471-1451C>T
NM_001005388.3(NFASC):c.3556G>T (p.Glu1186Ter)
NM_001080517.3(SETD5):c.1441-2A>G
NM_001122764.3(PPOX):c.1291+1G>T
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001458.5(FLNC):c.5285del (p.Arg1762fs)
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
NM_002778.4(PSAP):c.816_823del (p.Asp272fs)
NM_003336.4(UBE2A):c.330+1G>A
NM_003482.3(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003611.3(OFD1):c.2387+1G>A
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_004974.4(KCNA2):c.929A>G (p.His310Arg)
NM_004999.4(MYO6):c.2078-2A>G
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)
NM_005450.5(NOG):c.611G>A (p.Arg204Gln) rs104894610
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter)
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721

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