ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and "uncertain significance" from any submitter

Minimum review status of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 70
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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