ClinVar Miner

List of variants reported as likely benign for Mucolipidosis type II by Natera, Inc.

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=) rs754863486 0.00010
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=) rs143931833 0.00010
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=) rs777525816 0.00004
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=) rs757765886 0.00003
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=) rs781704040 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=) rs776105842 0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=) rs778029826 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=) rs758930596
NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=) rs746619207
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=) rs374600127
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070

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