ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India and "likely pathogenic" from any submitter

Minimum review status of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India: Collection method of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 76
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_001015880.2(PAPSS2):c.640-1G>C rs981095457 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001353214.3(DYM):c.1728+2T>C rs2087482291
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) rs587777088
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799

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