ClinVar Miner

List of variants in gene SHOC2 reported as uncertain significance by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr) rs201289608 0.00021
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile) rs759910472 0.00004
NM_007373.4(SHOC2):c.-1C>T rs398124252 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_007373.4(SHOC2):c.1161+5G>T rs375479660 0.00001
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe) rs730881022 0.00001
NM_007373.4(SHOC2):c.1417T>A (p.Leu473Ile) rs767686810 0.00001
NM_007373.4(SHOC2):c.1650C>A (p.Asn550Lys) rs1417194283 0.00001
NM_007373.4(SHOC2):c.445A>G (p.Met149Val) rs766550166 0.00001
NM_007373.4(SHOC2):c.52G>A (p.Val18Ile) rs1226932309 0.00001
NM_007373.4(SHOC2):c.574G>T (p.Asp192Tyr) rs769457449 0.00001
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe) rs1196924389 0.00001
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr) rs1300537933 0.00001
NM_007373.4(SHOC2):c.1055C>T (p.Ser352Phe) rs1848437546
NM_007373.4(SHOC2):c.1220T>A (p.Leu407Ter) rs2134177799
NM_007373.4(SHOC2):c.1490C>A (p.Thr497Lys) rs730881023
NM_007373.4(SHOC2):c.1672C>T (p.Pro558Ser) rs1016085845
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)
NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg) rs1564714645
NM_007373.4(SHOC2):c.342A>G (p.Ile114Met) rs2134121467
NM_007373.4(SHOC2):c.46C>T (p.Pro16Ser) rs2134120985
NM_007373.4(SHOC2):c.493_494del (p.Ser164_Leu165insTer) rs1564714802
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp) rs1057517872
NM_007373.4(SHOC2):c.519G>T (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.557C>T (p.Ser186Leu)
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe) rs1847644218
NM_007373.4(SHOC2):c.720C>A (p.Leu240=) rs759714493
NM_007373.4(SHOC2):c.721A>G (p.Ile241Val)
NM_007373.4(SHOC2):c.73G>C (p.Glu25Gln)
NM_007373.4(SHOC2):c.743A>C (p.Asn248Thr) rs374067666
NM_007373.4(SHOC2):c.7A>G (p.Ser3Gly) rs749032903
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val) rs759211899
NM_007373.4(SHOC2):c.914A>G (p.Lys305Arg) rs2134168650

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