ClinVar Miner

List of variants in gene SHOC2 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_007373.3(SHOC2):c.*1218C>T rs886046735
NM_007373.3(SHOC2):c.*1245T>C rs754913685
NM_007373.3(SHOC2):c.*1486dup rs549502834
NM_007373.3(SHOC2):c.*1487G>T rs7074770
NM_007373.3(SHOC2):c.*1575A>G rs886046736
NM_007373.3(SHOC2):c.*404A>G rs539394184
NM_007373.3(SHOC2):c.*518T>C rs886046731
NM_007373.3(SHOC2):c.*614T>G rs886046732
NM_007373.3(SHOC2):c.*625del rs886046733
NM_007373.3(SHOC2):c.*656C>G rs557334390
NM_007373.3(SHOC2):c.*958C>A rs372493479
NM_007373.3(SHOC2):c.-1C>T rs398124252
NM_007373.3(SHOC2):c.-254C>T rs886046728
NM_007373.3(SHOC2):c.1004G>A (p.Ser335Asn)
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1284+15G>A rs770745229
NM_007373.3(SHOC2):c.1422+9_1422+11del rs750754038
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.1682T>C (p.Val561Ala) rs776628753
NM_007373.3(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.3(SHOC2):c.170C>T (p.Ser57Phe) rs536611911
NM_007373.3(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203
NM_007373.3(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) rs147068827
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.3(SHOC2):c.52G>A (p.Val18Ile)
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) rs751292868
NM_007373.3(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.3(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927

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