ClinVar Miner

List of variants reported as likely benign for Tay-Sachs disease AB variant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.*2643G>T rs114108271 0.01991
NM_000405.5(GM2A):c.*226C>T rs537947985 0.00255
NM_000405.5(GM2A):c.*864C>T rs191120902 0.00151
NM_000405.5(GM2A):c.33C>T (p.Ile11=) rs143867953 0.00096
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740 0.00041
NM_000405.5(GM2A):c.*255C>T rs75026189 0.00016
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994 0.00013
NM_000405.5(GM2A):c.*629C>T rs184763035 0.00012
NM_000405.5(GM2A):c.427-4G>A rs761411485 0.00006
NM_000405.5(GM2A):c.138G>A (p.Ala46=) rs147511920 0.00004
NM_000405.5(GM2A):c.177C>T (p.Ile59=) rs745799277 0.00004
NM_000405.5(GM2A):c.82-15C>T rs369106753 0.00004
NM_000405.5(GM2A):c.244-13T>G rs772862761 0.00003
NM_000405.5(GM2A):c.450C>T (p.Ser150=) rs755569739 0.00003
NM_000405.5(GM2A):c.516C>T (p.Ser172=) rs754452771 0.00002
NM_000405.5(GM2A):c.195C>T (p.Thr65=) rs768523926 0.00001
NM_000405.5(GM2A):c.24C>T (p.Pro8=) rs752323907 0.00001
NM_000405.5(GM2A):c.39G>A (p.Leu13=) rs374161170 0.00001
NM_000405.5(GM2A):c.495C>T (p.Thr165=) rs759623712 0.00001
NM_000405.5(GM2A):c.522G>C (p.Leu174=) rs778176491 0.00001
NM_000405.5(GM2A):c.82-8G>C rs376211344 0.00001
NM_000405.5(GM2A):c.*1312G>T rs541345989
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)
NM_000405.5(GM2A):c.243+10G>A
NM_000405.5(GM2A):c.243+9G>A
NM_000405.5(GM2A):c.244-15A>T
NM_000405.5(GM2A):c.244-6T>C rs2127240577
NM_000405.5(GM2A):c.261G>A (p.Glu87=)
NM_000405.5(GM2A):c.315C>T (p.Ser105=)
NM_000405.5(GM2A):c.342G>C (p.Val114=)
NM_000405.5(GM2A):c.36C>T (p.Ala12=)
NM_000405.5(GM2A):c.381G>A (p.Glu127=)
NM_000405.5(GM2A):c.426+11A>T
NM_000405.5(GM2A):c.427-12G>A
NM_000405.5(GM2A):c.427-4G>T
NM_000405.5(GM2A):c.427-6C>T
NM_000405.5(GM2A):c.427-7C>T
NM_000405.5(GM2A):c.429A>T (p.Gly143=)
NM_000405.5(GM2A):c.492C>G (p.Thr164=)
NM_000405.5(GM2A):c.558C>T (p.Ile186=)
NM_000405.5(GM2A):c.570A>G (p.Leu190=)
NM_000405.5(GM2A):c.579A>C (p.Ile193=)
NM_000405.5(GM2A):c.57C>G (p.Ala19=)
NM_000405.5(GM2A):c.82-17T>C
NM_000405.5(GM2A):c.82-18C>T
NM_000405.5(GM2A):c.84A>G (p.Pro28=)

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