ClinVar Miner

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

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu) rs1064794979
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001042424.3(NSD2):c.619del (p.Cys207fs) rs1717589360
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs) rs2062114611
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter) rs1750958862
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs) rs2053150009
NM_001370658.1(BTD):c.430del (p.Arg144fs)
NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs) rs2019488878
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs) rs1289149988
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001378120.1(MBD5):c.4946del (p.Ser1649fs)
NM_001904.4(CTNNB1):c.1683+1del
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) rs1714839412
NM_003470.3(USP7):c.1722del (p.Gln574fs)
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)
NM_005859.5(PURA):c.703del (p.Val235fs) rs1763053563
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
NM_015100.4(POGZ):c.3360dup (p.Met1121fs) rs1653455584
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
NM_015443.4(KANSL1):c.2591del (p.Asn864fs) rs2077088526
NM_017934.7(PHIP):c.2T>C (p.Met1Thr) rs1774283406
NM_021224.6(ZNF462):c.6068_6072del (p.Asp2023fs) rs1830464621
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_024496.4(IRF2BPL):c.248_293delinsCCCGG (p.Leu83fs) rs1885185522
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182641.4(BPTF):c.52_61del (p.Glu18fs) rs2055932118
NM_207037.2(TCF12):c.826-2A>G rs2151925569

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