List of variants in gene combination SP110, SP140 reported as pathogenic for digestive system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_080424.4(SP110):c.686dup (p.Gln231fs)	rs763364899	0.00002
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter)	rs199938221
NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)
NM_080424.4(SP110):c.1114C>T (p.Arg372Ter)	rs199713399
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs)	rs2148850717
NM_080424.4(SP110):c.299del (p.Tyr100fs)
NM_080424.4(SP110):c.40del (p.Gln14fs)	rs397515362
NM_080424.4(SP110):c.436C>T (p.Gln146Ter)	rs2148926458
NM_080424.4(SP110):c.463A>T (p.Arg155Ter)
NM_080424.4(SP110):c.642del (p.Ser215fs)	rs397515361
NM_080424.4(SP110):c.699del (p.Asp234fs)	rs2148917380
NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu)	rs397515572
NM_080424.4(SP110):c.80dup (p.His28fs)
NM_080424.4(SP110):c.886del (p.Ser296fs)
NM_080424.4(SP110):c.943del (p.Val315fs)

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