ClinVar Miner

List of variants in gene C10orf105, CDH23 studied for bone disorder

Included ClinVar conditions (1436):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs) rs2494092869
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.3339_3350del (p.Asp1114_Glu1117del)
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter) rs111033509
NM_022124.6(CDH23):c.3476T>G (p.Leu1159Arg)
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs) rs2494152459
NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter) rs2494152884
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter) rs771305669
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter) rs2132820119
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs) rs2494184441
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter) rs2494184862
NM_022124.6(CDH23):c.3820del (p.Glu1274fs) rs2494185218
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter) rs1204040319
NM_022124.6(CDH23):c.4101_4104+3del rs2494187565
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
NM_022124.6(CDH23):c.4105-1G>A
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn) rs2494196416
NM_022124.6(CDH23):c.4207-2A>G rs996451417
NM_022124.6(CDH23):c.4209+1G>T rs727503841

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