ClinVar Miner

List of variants in gene CRB1 reported as not provided

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Total variants: 61
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HGVS dbSNP
NM_201253.2(CRB1):c.111delT (p.Ser38Leufs) rs62645750
NM_201253.2(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.2(CRB1):c.1208C>G (p.Ser403Ter) rs62645746
NM_201253.2(CRB1):c.1298A>G (p.Tyr433Cys) rs62636288
NM_201253.2(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.2(CRB1):c.1438T>C (p.Cys480Arg) rs62636264
NM_201253.2(CRB1):c.1439G>A (p.Cys480Tyr) rs62636265
NM_201253.2(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.2(CRB1):c.2035C>G (p.Gln679Glu) rs62636286
NM_201253.2(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.2(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.2(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.2(CRB1):c.2234C>T (p.Thr745Met) rs28939720
NM_201253.2(CRB1):c.2244_2246delATC (p.Ser749del) rs62635653
NM_201253.2(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2441T>A (p.Leu814Gln) rs62636268
NM_201253.2(CRB1):c.2479G>T (p.Gly827Ter) rs62636269
NM_201253.2(CRB1):c.2509G>C (p.Asp837His) rs62636289
NM_201253.2(CRB1):c.2548_2551del (p.Gly850Valfs) rs62636270
NM_201253.2(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.2(CRB1):c.258_259insTG (p.Asn87Terfs) rs62636260
NM_201253.2(CRB1):c.2613dupT (p.Ala872Cysfs) rs62636272
NM_201253.2(CRB1):c.2671T>G (p.Cys891Gly) rs62635658
NM_201253.2(CRB1):c.2681A>G (p.Asn894Ser) rs62636290
NM_201253.2(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.2(CRB1):c.2823G>A (p.Pro941=) rs62645757
NM_201253.2(CRB1):c.2842T>A (p.Cys948Ser) rs62645747
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.2(CRB1):c.2853dupT (p.Ala952Cysfs) rs281865173
NM_201253.2(CRB1):c.2882_2884delTAT (p.Leu962del) rs62645745
NM_201253.2(CRB1):c.2983G>T (p.Glu995Ter) rs62635655
NM_201253.2(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.2(CRB1):c.3122T>C (p.Met1041Thr) rs62635656
NM_201253.2(CRB1):c.3171C>T (p.Asn1057=) rs62636284
NM_201253.2(CRB1):c.3212T>C (p.Leu1071Pro) rs62635657
NM_201253.2(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.2(CRB1):c.3299T>G (p.Ile1100Arg) rs62635659
NM_201253.2(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.2(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276
NM_201253.2(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.2(CRB1):c.3331G>T (p.Glu1111Ter) rs62636277
NM_201253.2(CRB1):c.3345delT (p.Phe1116Serfs) rs62636278
NM_201253.2(CRB1):c.3541T>C (p.Cys1181Arg) rs62636291
NM_201253.2(CRB1):c.3614G>A (p.Gly1205Glu) rs62636279
NM_201253.2(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.2(CRB1):c.3949A>C (p.Asn1317His) rs62636281
NM_201253.2(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.2(CRB1):c.3961_3970del (p.Cys1321Metfs) rs63749127
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.4118_4127del (p.Ala1374Glufs) rs281865175
NM_201253.2(CRB1):c.428_432del (p.Arg143Metfs) rs62636261
NM_201253.2(CRB1):c.430T>G (p.Phe144Val) rs62636262
NM_201253.2(CRB1):c.478dupG (p.Ala161Glyfs) rs62635048
NM_201253.2(CRB1):c.482C>T (p.Ala161Val) rs62635651
NM_201253.2(CRB1):c.613_619delATAGGAA (p.Ile205Aspfs) rs62645752
NM_201253.2(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.2(CRB1):c.616_621del (p.Gly206_Arg207del) rs62645753
NM_201253.2(CRB1):c.750T>G (p.Cys250Trp) rs62635652
NM_201253.2(CRB1):c.866C>T (p.Thr289Met) rs62636263
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602

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