ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics laboratory, Necker Hospital

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_000054.7(AVPR2):c.262G>A (p.Val88Met)
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000503.6(EYA1):c.1496_1499del (p.Ile498_Leu499insTer) rs2128850253
NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.1015G>A (p.Val339Met) rs72558488
NM_000531.6(OTC):c.1052del (p.Lys351fs) rs2068592875
NM_000531.6(OTC):c.116G>C (p.Gly39Ala) rs1602014500
NM_000531.6(OTC):c.128T>C (p.Leu43Pro) rs2068301622
NM_000531.6(OTC):c.214G>A (p.Glu72Lys) rs2068302412
NM_000531.6(OTC):c.217-2A>G rs2068314699
NM_000531.6(OTC):c.298+1del rs2068315570
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298G>T (p.Gly100Cys) rs2068315546
NM_000531.6(OTC):c.327T>A (p.Cys109Ter) rs2068375565
NM_000531.6(OTC):c.473C>T (p.Pro158Leu) rs2068485732
NM_000531.6(OTC):c.488T>G (p.Leu163Arg) rs2068486155
NM_000531.6(OTC):c.568dup (p.Thr190fs) rs2068501144
NM_000531.6(OTC):c.584G>C (p.Gly195Ala) rs2068501410
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.635G>T (p.Gly212Val) rs2068502421
NM_000531.6(OTC):c.652G>C (p.Ala218Pro) rs2068502738
NM_000531.6(OTC):c.740C>G (p.Thr247Arg) rs72558437
NM_000531.6(OTC):c.766G>T (p.Gly256Ter) rs2068529566
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.944T>C (p.Val315Ala) rs67414444
NM_000531.6(OTC):c.946T>G (p.Phe316Val) rs2068545602
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) rs2127404974
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) rs1421204500
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001172509.2(SATB2):c.1327_1330dup (p.Asn444fs)
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001303052.2(MYT1L):c.1751del (p.Lys584fs)
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001374828.1(ARID1B):c.2863C>T (p.Gln955Ter)
NM_002069.6(GNAI1):c.118G>C (p.Gly40Arg)
NM_002804.5(PSMC3):c.782T>C (p.Ile261Thr)
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004793.4(LONP1):c.901C>G (p.Arg301Gly)
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_005076.5(CNTN2):c.1748_1749delinsC (p.Gly583fs)
NM_005321.3(H1-4):c.444dup (p.Lys149fs)
NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val) rs886041010
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007317.3(KIF22):c.146G>A (p.Arg49Gln)
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
NM_014516.4(CNOT3):c.821_825dup (p.Asn276fs)
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015335.5(MED13L):c.626-1_626dup
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del) rs869025283
NM_021964.3(ZNF148):c.1456G>T (p.Glu486Ter)
NM_025074.7(FRAS1):c.1176C>G (p.Tyr392Ter) rs766539773
NM_025074.7(FRAS1):c.7747C>T (p.Gln2583Ter) rs1719828511
NM_025074.7(FRAS1):c.879C>G (p.Tyr293Ter) rs2110155552
NM_130839.5(UBE3A):c.1187_1188insAG (p.Pro397fs)
NM_133330.3(NSD2):c.1676_1679del rs1553873247
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138694.4(PKHD1):c.10287dup (p.Val3430fs) rs2150417724
NM_138694.4(PKHD1):c.11421del (p.Asp3808fs) rs2150329422
NM_138694.4(PKHD1):c.1694-74_1837-287del
NM_138694.4(PKHD1):c.444_445del (p.Pro149fs) rs2128236766
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys) rs876657395
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407

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