ClinVar Miner

List of variants in gene SHOC2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 43
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HGVS dbSNP gnomAD frequency
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.*16C>A rs753327392 0.00013
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
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.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.1423-15T>C rs775689426 0.00004
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=) rs370929606 0.00004
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_007373.4(SHOC2):c.886C>T (p.Leu296=) rs199723694 0.00003
NM_007373.4(SHOC2):c.894A>C (p.Ala298=) rs767912952 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_007373.4(SHOC2):c.109G>C (p.Glu37Gln) rs1170704957 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.*16C>G rs753327392
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn) rs758241851
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg) rs1564714645
NM_007373.4(SHOC2):c.284_351dup (p.Ser118fs) rs1847638431
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.309G>A (p.Met103Ile) rs1479169790
NM_007373.4(SHOC2):c.32C>A (p.Ser11Tyr) rs1381863749
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly) rs768053004
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.556T>G (p.Ser186Ala) rs1000163945
NM_007373.4(SHOC2):c.567T>C (p.Tyr189=) rs1847644303
NM_007373.4(SHOC2):c.605A>G (p.Asn202Ser)
NM_007373.4(SHOC2):c.704-19del rs768697153
NM_007373.4(SHOC2):c.85A>G (p.Lys29Glu) rs1414935471
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val) rs759211899
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
NM_007373.4(SHOC2):c.96A>T (p.Gly32=) rs1847633735
NM_007373.4(SHOC2):c.973-5del rs730881016

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