ClinVar Miner

List of variants in gene SHOC2 studied for RASopathy

Included ClinVar conditions (37):
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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_007373.3(SHOC2):c.-1C>T rs398124252
NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1302C>T (p.Asn434=) rs146147503
NM_007373.3(SHOC2):c.1423-7C>T rs180671383
NM_007373.3(SHOC2):c.1540+8C>A rs771283010
NM_007373.3(SHOC2):c.1540+8C>T rs771283010
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940
NM_007373.3(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926
NM_007373.3(SHOC2):c.1665C>T (p.His555=) rs1060504382
NM_007373.3(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.3(SHOC2):c.1682T>C (p.Val561Ala) rs776628753
NM_007373.3(SHOC2):c.1689G>T (p.Gly563=)
NM_007373.3(SHOC2):c.170C>T (p.Ser57Phe) rs536611911
NM_007373.3(SHOC2):c.1744G>A (p.Val582Ile)
NM_007373.3(SHOC2):c.181C>A (p.Gln61Lys)
NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) rs147068827
NM_007373.3(SHOC2):c.363G>A (p.Glu121=) rs115713408
NM_007373.3(SHOC2):c.377C>T (p.Thr126Ile) rs138375593
NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala) rs730881018
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala) rs768411950
NM_007373.3(SHOC2):c.71G>A (p.Arg24Lys)
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.879T>C (p.Tyr293=) rs773817796
NM_007373.3(SHOC2):c.886C>T (p.Leu296=) rs199723694
NM_007373.3(SHOC2):c.894A>C (p.Ala298=) rs767912952
NM_007373.3(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_007373.3(SHOC2):c.973-5delT rs730881016

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