ClinVar Miner

List of variants in gene SHOC2 reported as benign for RASopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_007373.3(SHOC2):c.10A>C (p.Ser4Arg) rs397517231
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
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>T rs771283010
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
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.973-5delT rs730881016

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