ClinVar Miner

List of variants in gene SHOC2 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_007373.4(SHOC2):c.428G>A (p.Gly143Glu) rs750480407 0.00002
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=) rs199869304 0.00001
NM_007373.4(SHOC2):c.1161+5G>T rs375479660 0.00001
NM_007373.4(SHOC2):c.1273G>A (p.Val425Ile) rs772835258 0.00001
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=) rs539117121 0.00001
NM_007373.4(SHOC2):c.332C>T (p.Ser111Phe) rs149084468 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007373.4(SHOC2):c.842-3C>T rs1485718634 0.00001
NM_007373.4(SHOC2):c.1445A>T (p.Gln482Leu) rs1259268451
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_007373.4(SHOC2):c.1592A>G (p.His531Arg) rs1848567648
NM_007373.4(SHOC2):c.756C>A (p.His252Gln) rs2134149170
NM_007373.4(SHOC2):c.973-5del rs730881016

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