List of variants in gene CHM reported as likely pathogenic for not provided

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)	rs786205604	0.00001
NC_000023.10:g.(?_85211158)_(85237732_?)dup
NC_000023.10:g.(?_85218687)_(85221623_?)del
NM_000390.4(CHM):c.116+1G>A	rs786204761
NM_000390.4(CHM):c.1413G>A (p.Gln471=)	rs1556257626
NM_000390.4(CHM):c.1609+1G>A	rs2148126338
NM_000390.4(CHM):c.1610-2A>T
NM_000390.4(CHM):c.1680del (p.Ser561fs)	rs1556207100
NM_000390.4(CHM):c.2T>C (p.Met1Thr)	rs2147819159
NM_000390.4(CHM):c.49+3A>G	rs2147818976
NM_000390.4(CHM):c.49+5G>A	rs1057521475
NM_000390.4(CHM):c.50-2A>G
NM_000390.4(CHM):c.703-1G>A
NM_000390.4(CHM):c.819+1G>A	rs1603263147
NM_000390.4(CHM):c.820-8T>G	rs2147665924
NM_000390.4(CHM):c.940G>A (p.Gly314Arg)	rs1930082958
NM_000390.4(CHM):c.941-1G>T	rs1930009592

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