ClinVar Miner

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

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_080424.2(SP110):c.127A>G (p.Ile43Val) rs886055766
NM_080424.2(SP110):c.237T>G (p.Ser79=) rs202135641
NM_080424.2(SP110):c.271C>A (p.Arg91Ser)
NM_080424.2(SP110):c.335G>A (p.Arg112Gln)
NM_080424.2(SP110):c.337_341CAGAG[1] (p.Ser114fs) rs1559178521
NM_080424.2(SP110):c.459G>A (p.Ala153=) rs201957445
NM_080424.2(SP110):c.518C>T (p.Ser173Leu)
NM_080424.2(SP110):c.542T>G (p.Leu181Arg) rs77642505
NM_080424.2(SP110):c.544C>T (p.Pro182Ser)
NM_080424.2(SP110):c.550C>T (p.Pro184Ser) rs750052870
NM_080424.2(SP110):c.584-10C>G rs148591984
NM_080424.2(SP110):c.618G>A (p.Ala206=)
NM_080424.2(SP110):c.842A>G (p.Lys281Arg)
NM_080424.2(SP110):c.86A>T (p.Lys29Met)

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