ClinVar Miner

List of variants in gene SHOC2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_007373.4(SHOC2):c.1541-29A>T rs11593866 0.06129
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_007373.4(SHOC2):c.1162-16T>G rs376859485 0.00052
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.972+8G>C rs748386843 0.00004
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.1404A>G (p.Ala468=) rs764705344 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_007373.4(SHOC2):c.1161+4A>G
NM_007373.4(SHOC2):c.1422+5A>G
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1544C>T (p.Thr515Ile)
NM_007373.4(SHOC2):c.1592A>G (p.His531Arg) rs1848567648
NM_007373.4(SHOC2):c.1650C>G (p.Asn550Lys)
NM_007373.4(SHOC2):c.16G>A (p.Gly6Arg)
NM_007373.4(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val) rs759211899
NM_007373.4(SHOC2):c.973-5del rs730881016

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