List of variants in gene PTDSS1 studied for Lenz-Majewski hyperostotic dwarfism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014754.3(PTDSS1):c.1073+48T>A	rs961075	0.45287
NM_014754.3(PTDSS1):c.1242+27A>G	rs2280263	0.41589
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)	rs587777088
NM_014754.3(PTDSS1):c.1312+12_1312+17del	rs3830537
NM_014754.3(PTDSS1):c.1404T>A (p.Asn468Lys)
NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu)	rs1810593860
NM_014754.3(PTDSS1):c.275C>T (p.Pro92Leu)
NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln)	rs1131691429
NM_014754.3(PTDSS1):c.686G>A (p.Gly229Asp)
NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro)	rs587777090
NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser)	rs587777089
NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe)	rs1811091915
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)	rs1586200380
NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu)	rs1586200389

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