ClinVar Miner

List of variants in gene ASS1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.421-28C>T rs76169404 0.00175
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NM_054012.4(ASS1):c.420+13T>G rs201883474 0.00099
NM_054012.4(ASS1):c.99C>T (p.Ala33=) rs147842617 0.00081
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00020
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_054012.4(ASS1):c.438G>A (p.Arg146=) rs1180017518 0.00001
NM_054012.4(ASS1):c.1036G>T (p.Glu346Ter)
NM_054012.4(ASS1):c.566+18C>G rs200036163
NM_054012.4(ASS1):c.773+59C>A
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_054012.4(ASS1):c.804C>T (p.Ile268=) rs773540764
NM_054012.4(ASS1):c.824G>T (p.Gly275Val)

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