List of variants in gene CHM reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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.1359del (p.Arg454fs)	rs1926208868
NM_000390.4(CHM):c.1413+1G>T	rs1926202120
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	rs132630264
NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT (p.Thr511delinsIlePheTer)	rs1924595442
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter)	rs1924195176
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)	rs1924193863
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	rs1603288832
NM_000390.4(CHM):c.315-4587T>A	rs1930707138
NM_000390.4(CHM):c.49+5G>A	rs1057521475
NM_000390.4(CHM):c.50-1G>C	rs1933881504
NM_000390.4(CHM):c.525_526del (p.Glu177fs)	rs886041177
NM_000390.4(CHM):c.645del (p.Thr216fs)	rs1930416163
NM_000390.4(CHM):c.660dup (p.Ile221fs)	rs1603264410
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	rs776256380
NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	rs527236048
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	rs132630266
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter)	rs758669355

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