ClinVar Miner

List of variants in gene CHM reported as pathogenic for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NC_000023.11:g.(86027558_86047483)_(86047533_?)del
NC_000023.11:g.(?_85864629)_(85864822_85873051)del
NC_000023.11:g.(?_85864629)_(85879064_85894187)del
NC_000023.11:g.86041956_86048370inv
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)
NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.1166+1G>C rs2147662906
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.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.1350-1G>A rs2148153587
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.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1363del (p.Ala455fs) rs1926208067
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1509del (p.Tyr504fs)
NM_000390.4(CHM):c.1512T>A (p.Tyr504Ter)
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1615G>T (p.Glu539Ter)
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter) rs764025364
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.224G>A (p.Trp75Ter) rs1931440274
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.280del (p.Thr94fs) rs1555958073
NM_000390.4(CHM):c.286C>T (p.Gln96Ter) rs1931431411
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
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.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.616dup (p.Thr206fs) rs2147675545
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.703dup (p.Leu235fs) rs2147667670
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
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.819+1G>A rs1603263147
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
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.941-1G>A
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.971T>G (p.Leu324Ter) rs1930006988
NM_000390.4(CHM):c.979C>T (p.Gln327Ter) rs2147663380
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
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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