List of variants in gene GNPTAB reported as uncertain significance by Counsyl

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg)	rs145281185	0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)	rs192687061	0.00009
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu)	rs140656599	0.00006
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu)	rs142025274	0.00002
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser)	rs137853822	0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp)	rs373662553	0.00001
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys)	rs779572693	0.00001
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val)	rs142172397	0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys)	rs1481471124	0.00001
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del)	rs1555269798
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)	rs143788461
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu)	rs1555269734
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del)	rs754722814
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del)	rs281864999
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del)	rs774128798
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del)	rs779351251
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del)	rs1277911354
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup)	rs745600783
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp)	rs1555268297
NM_024312.5(GNPTAB):c.3694-1G>C	rs1297022622
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)	rs556318081

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