ClinVar Miner

List of variants in gene GNPTAB reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1826C>A (p.Thr609Asn) rs138811990 0.00054
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_024312.5(GNPTAB):c.1269C>T (p.His423=) rs111863978 0.00036
NM_024312.5(GNPTAB):c.3693+32A>G rs186221736 0.00031
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024312.5(GNPTAB):c.1800C>T (p.Leu600=) rs534858651 0.00004
NM_024312.5(GNPTAB):c.1023A>G (p.Pro341=) rs750876420 0.00002
NM_024312.5(GNPTAB):c.1086T>C (p.Asn362=) rs908316825 0.00001
NM_024312.5(GNPTAB):c.1263C>T (p.Tyr421=) rs771724795 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024312.5(GNPTAB):c.1104A>T (p.Val368=) rs565900629
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=) rs77410031
NM_024312.5(GNPTAB):c.2829T>C (p.Asn943=)
NM_024312.5(GNPTAB):c.3612T>C (p.Tyr1204=) rs1457465597
NM_024312.5(GNPTAB):c.3693+9del rs750658234
NM_024312.5(GNPTAB):c.630C>T (p.Gly210=) rs886038684

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