ClinVar Miner

Variants in gene combination PRSS1, TRB with conflicting interpretations

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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
498 141 0 24 22 0 9 46

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 6 4 1 3
likely pathogenic 6 0 5 0 1
uncertain significance 4 5 0 17 7
likely benign 1 0 17 0 18
benign 3 1 7 18 0

All variants with conflicting interpretations #

Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp) rs141554682 0.00001
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.351A>C (p.Ala117=) rs606231346
NM_002769.5(PRSS1):c.354A>C (p.Val118=) rs606231347
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566

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