ClinVar Miner

List of variants reported as uncertain significance for arthrogryposis, distal, type 1B

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val) rs150541115 0.00007
NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro) rs886048831 0.00003
NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala) rs769333525 0.00003
NM_002465.4(MYBPC1):c.309A>T (p.Ile103=) rs886048829 0.00003
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) rs778424803 0.00002
NM_002465.4(MYBPC1):c.*277T>C rs886048839 0.00001
NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met) rs757883130 0.00001
NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr) rs745325597 0.00001
NM_002465.4(MYBPC1):c.675G>A (p.Lys225=) rs376374877 0.00001
NM_002465.4(MYBPC1):c.*144C>G rs886048836
NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr) rs747972508
NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro) rs1893900522
NM_002465.4(MYBPC1):c.142+10A>T rs1166293190
NM_002465.4(MYBPC1):c.2033-9T>A rs1239597775
NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His) rs556762061
NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu) rs1896928927
NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=) rs886048834
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) rs387906658
NM_002465.4(MYBPC1):c.288del (p.Gly97fs) rs778284790
NM_002465.4(MYBPC1):c.290-10C>T rs1889902104
NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu) rs749155247
NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg) rs1900220711
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu) rs886048835

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