ClinVar Miner

List of variants in gene PDP1 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_018444.4(PDP1):c.*1091A>C rs568829851
NM_018444.4(PDP1):c.*1113T>C rs537546709
NM_018444.4(PDP1):c.*1127T>C rs766520277
NM_018444.4(PDP1):c.*1324G>A rs774244422
NM_018444.4(PDP1):c.*1370A>G rs886063182
NM_018444.4(PDP1):c.*1409G>A rs757140568
NM_018444.4(PDP1):c.*1487A>T rs189435075
NM_018444.4(PDP1):c.*1564C>A rs111728711
NM_018444.4(PDP1):c.*1609A>G rs186669527
NM_018444.4(PDP1):c.*1612G>A rs886063183
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184
NM_018444.4(PDP1):c.*1651T>G rs886063185
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*1664G>A rs558897089
NM_018444.4(PDP1):c.*1799G>C rs535028389
NM_018444.4(PDP1):c.*1807T>A rs77734416
NM_018444.4(PDP1):c.*1844A>C rs886063186
NM_018444.4(PDP1):c.*1957G>T rs886063187
NM_018444.4(PDP1):c.*1961G>C rs886063188
NM_018444.4(PDP1):c.*2133G>A rs886063189
NM_018444.4(PDP1):c.*2299A>G rs886063190
NM_018444.4(PDP1):c.*368C>G rs551728387
NM_018444.4(PDP1):c.*491T>G rs41272417
NM_018444.4(PDP1):c.*49C>A rs192535454
NM_018444.4(PDP1):c.*566T>C rs78884124
NM_018444.4(PDP1):c.*592A>G rs537935933
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*743C>T rs886063180
NM_018444.4(PDP1):c.*886C>T rs547657737
NM_018444.4(PDP1):c.*898_*900CTT[1] rs756226872
NM_018444.4(PDP1):c.-142G>C rs764874879
NM_018444.4(PDP1):c.-67C>A rs372548037
NM_018444.4(PDP1):c.128G>C (p.Arg43Pro) rs201081450
NM_018444.4(PDP1):c.1431C>T (p.Asn477=) rs147477305
NM_018444.4(PDP1):c.1446C>T (p.Leu482=) rs137975172
NM_018444.4(PDP1):c.546C>T (p.Ser182=) rs202034256
NM_018444.4(PDP1):c.717C>G (p.Ala239=) rs150112501
NM_018444.4(PDP1):c.906C>T (p.Asp302=) rs138488258

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