ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "benign" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 43
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HGVS dbSNP gnomAD frequency
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_198578.4(LRRK2):c.3777+7C>T rs41286480 0.00097
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val) rs199838024 0.00067
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_198173.3(GRHL3):c.205-3C>A rs200425622 0.00031
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_002282.3(KRT83):c.828G>A (p.Met276Ile) rs200274404 0.00005
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_018418.5(SPATA7):c.373-15A>G rs781587897 0.00003
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) rs200093133 0.00002
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) rs776242478 0.00001
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005

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