List of variants in gene RS1 reported as pathogenic for X-linked disease

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)	rs2518937898
NM_000330.4(RS1):c.149G>A (p.Trp50Ter)	rs2147203086
NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	rs200866925
NM_000330.4(RS1):c.160_163dup (p.Thr55fs)	rs281865342
NM_000330.4(RS1):c.176G>C (p.Cys59Ser)
NM_000330.4(RS1):c.1A>T (p.Met1Leu)	rs281865332
NM_000330.4(RS1):c.26del (p.Leu9fs)
NM_000330.4(RS1):c.33_36del (p.Leu11fs)	rs281865335
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	rs104894935
NM_000330.4(RS1):c.53-1G>A	rs1928241490
NM_000330.4(RS1):c.68C>A (p.Ser23Ter)	rs62645882
NM_000330.4(RS1):c.78+1G>A	rs281865341
NM_000330.4(RS1):c.78+1G>T
NM_000330.4(RS1):c.96dup (p.Trp33fs)
NM_000330.4(RS1):c.97del (p.Trp33fs)	rs2518937907

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