List of variants in gene GALNS reported as pathogenic for Morquio syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)	rs118204443	0.00009
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	rs118204438	0.00008
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)	rs372893383	0.00005
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)	rs146093755	0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)	rs761385192	0.00004
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)	rs200374326	0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	rs118204448	0.00003
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)	rs1221167717	0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)	rs398123429	0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)	rs763184657	0.00002
NM_000512.5(GALNS):c.498del (p.Phe167fs)	rs772656696	0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	rs118204446	0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)	rs894525161	0.00002
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)	rs199638097	0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)	rs781439830	0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)	rs1308500116	0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	rs772413313	0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)	rs753051547	0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)	rs975409254	0.00001
NM_000512.5(GALNS):c.899-1G>C	rs745523154	0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)	rs746756997	0.00001
NM_000512.5(GALNS):c.1003-3C>G	rs760239741
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_000512.5(GALNS):c.1142del (p.Pro381fs)	rs746086649
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)	rs1209154325
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	rs727503946
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)	rs1444754604
NM_000512.5(GALNS):c.498C>G (p.His166Gln)	rs1301198698
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)	rs118204449
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)	rs1567530426
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)	rs768664270
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)	rs118204448

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