ClinVar Miner

List of variants in gene SHOC2 reported as likely benign for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_007373.3(SHOC2):c.*1062dup rs530047047
NM_007373.3(SHOC2):c.*1106A>C rs118172559
NM_007373.3(SHOC2):c.*1324G>A rs559572636
NM_007373.3(SHOC2):c.*1483G>A rs180979375
NM_007373.3(SHOC2):c.*164T>A rs191293913
NM_007373.3(SHOC2):c.*1775T>C rs535776105
NM_007373.3(SHOC2):c.*1775del rs527775221
NM_007373.3(SHOC2):c.*3T>C rs143187497
NM_007373.3(SHOC2):c.*506_*509del rs371679867
NM_007373.3(SHOC2):c.*697C>T rs189140753
NM_007373.3(SHOC2):c.*773G>A rs114628508
NM_007373.3(SHOC2):c.*914G>A rs189223963
NM_007373.3(SHOC2):c.-159T>C rs72819758
NM_007373.3(SHOC2):c.-179T>A rs143180451
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
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.1665C>T (p.His555=) rs1060504382
NM_007373.3(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
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.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.613A>G (p.Thr205Ala) rs768411950
NM_007373.3(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.3(SHOC2):c.879T>C (p.Tyr293=) rs773817796

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