ClinVar Miner

List of variants studied for Neu-Laxova syndrome by Baylor Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
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_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001

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