ClinVar Miner

Variants in gene DSP with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2080 169 0 69 53 0 3 107

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 1 0
likely pathogenic 3 0 3 1 1
uncertain significance 0 3 0 50 17
likely benign 1 1 50 0 66
benign 0 1 17 66 0

All variants with conflicting interpretations #

Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.4(DSP):c.1065G>A (p.Gln355=) rs750289780
NM_004415.4(DSP):c.1140+6T>C rs534740669
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.171-4T>C rs1554105598
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2437-20T>G rs778134276
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.2794-4dup rs397516924
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.2986-6T>A rs144748036
NM_004415.4(DSP):c.3018A>G (p.Leu1006=) rs375412541
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) rs185367490
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004415.4(DSP):c.423-16_423-15insC rs113028223
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.4(DSP):c.939+1G>A rs727504443

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