ClinVar Miner

List of variants reported by Institute of Medical Genetics, Medical University of Vienna

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg) rs201005406 0.00003
NM_003482.4(KMT2D):c.5468-1G>A rs759629535 0.00002
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter) rs1344332366 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) rs1289391715 0.00001
NC_000019.9:g.(45728172_45730919)_(45731525_45735020)del
NM_000089.4(COL1A2):c.1352G>A (p.Gly451Asp) rs2115902583
NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val) rs2475417678
NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val) rs2113697665
NM_000169.3(GLA):c.460A>G (p.Ile154Val) rs2520896270
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del) rs1791443181
NM_000216.4(ANOS1):c.774del (p.Trp258fs) rs2146817170
NM_001009944.3(PKD1):c.11872G>C (p.Ala3958Pro) rs2091492509
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys) rs2151799171
NM_001164508.2(NEB):c.24766-1G>C rs2152829108
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001378778.1(MPDZ):c.5125_5126insGTAT (p.Tyr1709fs) rs2131610068
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) rs2136528309
NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter) rs1933308051
NM_002471.4(MYH6):c.2134C>G (p.Pro712Ala) rs1891416803
NM_003482.4(KMT2D):c.11320C>T (p.Gln3774Ter) rs2120442365
NM_003482.4(KMT2D):c.5642_5644+1del rs2120563266
NM_004204.5(PIGQ):c.1092dup (p.Phe365fs)
NM_004484.4(GPC3):c.175+1G>T rs886039489
NM_005215.4(DCC):c.3073C>T (p.Arg1025Ter) rs1909920586
NM_005850.5(SF3B4):c.763_781del (p.Pro255fs) rs2101646017
NM_006009.4(TUBA1A):c.680T>A (p.Leu227Gln) rs2121243965
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs) rs2134234910
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) rs2150304168
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_138959.3(VANGL1):c.838del (p.Val279_Leu280insTer) rs2101027831

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