ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of serine family metabolism by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter) rs200617042 0.00010
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) rs764335664 0.00006
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu) rs201065535 0.00004
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln) rs201870833 0.00002
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035 0.00002
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) rs1479566156 0.00001
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu) rs1819724719
NM_001024845.3(SLC6A9):c.31-6241del rs1460786911

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