ClinVar Miner

List of variants studied for Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005412.6(SHMT2):c.1267G>A (p.Gly423Ser) rs751223752 0.00003
NM_005412.6(SHMT2):c.1133A>G (p.Asp378Gly) rs766445638 0.00001
NM_005412.6(SHMT2):c.1075C>T (p.Arg359Trp)
NM_005412.6(SHMT2):c.1124-4_1126delinsA rs2037430917
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) rs2037432429
NM_005412.6(SHMT2):c.1304A>C (p.Gln435Pro) rs2037448764
NM_005412.6(SHMT2):c.1462C>T (p.Arg488Trp)
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala) rs2037465152
NM_005412.6(SHMT2):c.281A>G (p.Asn94Ser)
NM_005412.6(SHMT2):c.469C>T (p.Pro157Ser) rs1426413125
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) rs769908186
NM_005412.6(SHMT2):c.650G>A (p.Arg217Gln)
NM_005412.6(SHMT2):c.758C>T (p.Ala253Val)
NM_005412.6(SHMT2):c.858-2A>G

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