ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675 0.00477
NM_001041.4(SI):c.2678C>T (p.Ala893Val) rs145893756 0.00247
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328 0.00198
NM_001041.4(SI):c.4868A>C (p.Asp1623Ala) rs146899814 0.00187
NM_001041.4(SI):c.4721C>G (p.Thr1574Ser) rs139908762 0.00169
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001041.4(SI):c.1146+9A>G rs114930150 0.00109
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001041.4(SI):c.5423G>A (p.Arg1808His) rs149654947 0.00058
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00043
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00040
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255 0.00026
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00025
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00017
NM_001041.4(SI):c.4359C>T (p.Tyr1453=) rs534252932 0.00009
NM_001041.4(SI):c.8G>T (p.Arg3Ile) rs766454276 0.00008
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.453A>G (p.Gln151=) rs374104171 0.00003
NM_001041.4(SI):c.5109-3T>C rs202110241 0.00002
NM_001041.4(SI):c.165A>C (p.Thr55=) rs752787890 0.00001
NM_001041.4(SI):c.3633+7T>C rs777324632 0.00001
NM_001041.4(SI):c.5217A>G (p.Leu1739=) rs913283353 0.00001
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.4947C>T (p.Ala1649=) rs2473200495
NM_001041.4(SI):c.636G>A (p.Leu212=) rs145891116
NM_001041.4(SI):c.717T>C (p.Tyr239=) rs753398539

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