ClinVar Miner

List of variants in gene CHM reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(86027558_86047483)_(86047533_?)del
NC_000023.11:g.(?_85864629)_(85864822_85873051)del
NC_000023.11:g.(?_85864629)_(85879064_85894187)del
NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)
NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter) rs1057517715
NM_000390.4(CHM):c.1244+1G>A
NM_000390.4(CHM):c.1255_1258del (p.Ala418_Ile419insTer)
NM_000390.4(CHM):c.1258del (p.Ile419_Ile420insTer)
NM_000390.4(CHM):c.1276A>T (p.Arg426Ter)
NM_000390.4(CHM):c.1287dup (p.Glu430Ter)
NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)
NM_000390.4(CHM):c.131_134dup (p.Asn46fs)
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.1349G>A (p.Arg450Lys)
NM_000390.4(CHM):c.1350-10T>A
NM_000390.4(CHM):c.1350-2A>G
NM_000390.4(CHM):c.1358_1359del (p.Ile452_Ser453insTer)
NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) rs1926208868
NM_000390.4(CHM):c.1413G>A (p.Gln471=) rs1556257626
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1509del (p.Tyr504fs)
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)
NM_000390.4(CHM):c.1748G>T (p.Gly583Val)
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.189+1G>A
NM_000390.4(CHM):c.217_221del (p.Pro73fs)
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000390.4(CHM):c.50-1G>A
NM_000390.4(CHM):c.50-1G>T
NM_000390.4(CHM):c.50-2A>G
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.534del (p.Glu179fs)
NM_000390.4(CHM):c.535G>T (p.Glu179Ter)
NM_000390.4(CHM):c.616dup (p.Thr206fs) rs2147675545
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000390.4(CHM):c.762T>G (p.Tyr254Ter)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.817C>T (p.Gln273Ter) rs2147667288
NM_000390.4(CHM):c.856del (p.Gln286fs)
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.940+1G>A
NM_000390.4(CHM):c.979C>T (p.Gln327Ter) rs2147663380
NM_000390.4:c.(116+1_117-1)_(1166+1_1167-1)del
NM_000390.4:c.(116+1_117-1)_(1244+1_1245-1)del
NM_000390.4:c.(116+1_117-1)_(189+1_190-1)del
NM_000390.4:c.(116+1_117-1)_(314+1_315-1)del
NM_000390.4:c.(1413+1_1414-1)_(1510+1_1511-1)del
NM_000390.4:c.(1510+1_1511-1)_(1770+1_1771-1)del
NM_000390.4:c.(314+1_315-1)_(1166+1_1167-1)del
NM_000390.4:c.(315-4311_315-1811)_(702+1_703-1)del
NM_000390.4:c.98_99insAluYb9

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