ClinVar Miner

List of variants reported as pathogenic by Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.160+1G>A rs753911740 0.00002
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 0.00001
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
NM_000789.4(ACE):c.3409C>T (p.Gln1137Ter)
NM_001005273.3(CHD3):c.4100_4101insT (p.Glu1368fs)
NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter)
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)
NM_001142864.4(PIEZO1):c.4914C>G (p.Tyr1638Ter)
NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
NM_001258392.3(CLPB):c.449_455del (p.Val150fs)
NM_001330360.2(POLA1):c.463-2A>T rs2148341850
NM_001367721.1(CASK):c.278+2_278+3del
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) rs2136564199
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
NM_004370.6(COL12A1):c.8319+1G>T
NM_004826.4(ECEL1):c.1059+1G>A
NM_004826.4(ECEL1):c.1685+1G>A
NM_005055.5(RAPSN):c.912+1G>A
NM_005105.5(RBM8A):c.*6C>T
NM_005199.5(CHRNG):c.55+5G>A
NM_005199.5(CHRNG):c.56-2A>G
NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del) rs763186690
NM_005996.4(TBX3):c.868C>T (p.Arg290Ter)
NM_014679.5(CEP57):c.382+2T>C rs1862141371
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
NM_020436.5(SALL4):c.2456dup (p.Met819fs)
NM_032608.7(MYO18B):c.2212-1G>A
NM_032608.7(MYO18B):c.3775+1G>T
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_181486.4(TBX5):c.672del (p.Gln224fs)
NM_203475.3(PORCN):c.137-1G>C

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