ClinVar Miner

List of variants studied for PSPH deficiency

Included ClinVar conditions (1):
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Total variants: 51
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HGVS dbSNP
NM_004577.3(PSPH):c.-632C>T rs34822782
NM_004577.3(PSPH):c.-681A>C rs886062396
NM_004577.3(PSPH):c.-683G>C rs148855313
NM_004577.3(PSPH):c.-708C>A rs187219685
NM_004577.3(PSPH):c.-708C>G rs187219685
NM_004577.3(PSPH):c.-711G>A rs886062397
NM_004577.3(PSPH):c.-715T>C rs886062398
NM_004577.3(PSPH):c.-720G>T rs190794562
NM_004577.4(PSPH):c.*11C>T rs35136814
NM_004577.4(PSPH):c.*233dup rs34727399
NM_004577.4(PSPH):c.*277G>A rs886062389
NM_004577.4(PSPH):c.*309A>G rs886062388
NM_004577.4(PSPH):c.*316C>T rs190483183
NM_004577.4(PSPH):c.*317G>A rs565399960
NM_004577.4(PSPH):c.*341G>A rs886062387
NM_004577.4(PSPH):c.*361A>G rs4947534
NM_004577.4(PSPH):c.*371A>G rs564916020
NM_004577.4(PSPH):c.*406G>A rs145544909
NM_004577.4(PSPH):c.*490C>T rs71543776
NM_004577.4(PSPH):c.*649A>C rs766855269
NM_004577.4(PSPH):c.-130G>T rs529188025
NM_004577.4(PSPH):c.-145-15A>G rs552907219
NM_004577.4(PSPH):c.-19-13dup rs368626187
NM_004577.4(PSPH):c.-228C>G rs886062391
NM_004577.4(PSPH):c.-235_-213delinsC rs886062390
NM_004577.4(PSPH):c.-333C>T rs886062392
NM_004577.4(PSPH):c.-339T>C rs535243315
NM_004577.4(PSPH):c.-357C>T rs745752622
NM_004577.4(PSPH):c.-430T>G rs886062393
NM_004577.4(PSPH):c.-442A>G rs184427284
NM_004577.4(PSPH):c.-456T>C rs190216482
NM_004577.4(PSPH):c.-461A>G rs886062394
NM_004577.4(PSPH):c.-485A>G rs530804173
NM_004577.4(PSPH):c.-519C>G rs886062395
NM_004577.4(PSPH):c.103G>A (p.Ala35Thr) rs786204793
NM_004577.4(PSPH):c.117C>T (p.Gly39=) rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=) rs202027697
NM_004577.4(PSPH):c.129G>A (p.Ala43=) rs548513131
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp) rs79451216
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln) rs144281276
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln) rs554689284
NM_004577.4(PSPH):c.155T>C (p.Met52Thr) rs104894036
NM_004577.4(PSPH):c.159C>T (p.Gly53=) rs74874687
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638
NM_004577.4(PSPH):c.60T>C (p.Asp20=) rs201376678
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752
NM_004577.4(PSPH):c.72G>C (p.Thr24=) rs145408555
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516

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