ClinVar Miner

List of variants in gene PHGDH studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
NM_006623.4(PHGDH):c.357-1G>A rs766427173
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058

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