ClinVar Miner

List of variants in gene combination SP110, SP140 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (962):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_004509.4(SP110):c.127A>G (p.Ile43Val) rs886055766
NM_004509.4(SP110):c.237T>G (p.Ser79=) rs202135641
NM_004509.4(SP110):c.271C>A (p.Arg91Ser) rs201053153
NM_004509.4(SP110):c.335G>A (p.Trp112Ter) rs757092766
NM_004509.4(SP110):c.337_341CAGAG[1] (p.Ser114fs) rs1559178521
NM_004509.4(SP110):c.459G>A (p.Ala153=) rs201957445
NM_004509.4(SP110):c.518C>T (p.Ser173Leu) rs41552315
NM_004509.4(SP110):c.544C>T (p.Pro182Ser) rs199978387
NM_004509.4(SP110):c.550C>T (p.Pro184Ser) rs750052870
NM_004509.4(SP110):c.618G>A (p.Ala206=) rs372578277
NM_004509.4(SP110):c.842A>G (p.Lys281Arg) rs187168146
NM_004509.4(SP110):c.86A>T (p.Lys29Met) rs756746930
NM_080424.4(SP110):c.-85T>C
NM_080424.4(SP110):c.185C>T (p.Ser62Phe)
NM_080424.4(SP110):c.209C>T (p.Thr70Ile)
NM_080424.4(SP110):c.340A>G (p.Ser114Gly)
NM_080424.4(SP110):c.370C>T (p.Pro124Ser)
NM_080424.4(SP110):c.386A>G (p.Glu129Gly)
NM_080424.4(SP110):c.431C>A (p.Pro144His)
NM_080424.4(SP110):c.617C>A (p.Ala206Glu)
NM_080424.4(SP110):c.711C>T (p.Asp237=)
NM_080424.4(SP110):c.725C>T (p.Pro242Leu)
NM_080424.4(SP110):c.829+10G>A
NM_080424.4(SP110):c.829+15T>C
NM_080424.4(SP110):c.848G>C (p.Cys283Ser)
NM_080424.4(SP110):c.877A>G (p.Lys293Glu)
NM_080424.4(SP110):c.898+14A>G

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