List of variants reported as likely benign for PSPH deficiency by Illumina Laboratory Services, Illumina

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004577.3(PSPH):c.-632C>T	rs34822782	0.03837
NM_004577.4(PSPH):c.-442A>G	rs184427284	0.00526
NM_004577.4(PSPH):c.-456T>C	rs190216482	0.00411
NM_004577.4(PSPH):c.72G>C (p.Thr24=)	rs145408555	0.00245
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln)	rs144281276	0.00138
NM_004577.4(PSPH):c.*317G>A	rs565399960	0.00009
NM_004577.4(PSPH):c.-19-13dup	rs368626187
NM_004577.4(PSPH):c.249A>C (p.Gln83His)	rs73343757

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