ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283 0.00064
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.1914G>T (p.Ser638=) rs780682072
NM_201253.3(CRB1):c.2327C>A (p.Thr776Asn) rs1293863321
NM_201253.3(CRB1):c.2560G>C (p.Asp854His) rs1553261618
NM_201253.3(CRB1):c.2596C>A (p.Pro866Thr)
NM_201253.3(CRB1):c.2842+33T>G
NM_201253.3(CRB1):c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr) rs2125499076
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) rs1553262957
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3086T>C (p.Val1029Ala) rs1064797128
NM_201253.3(CRB1):c.3791C>A (p.Thr1264Lys) rs1284147743
NM_201253.3(CRB1):c.3871G>A (p.Gly1291Arg)
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.529G>C (p.Gly177Arg) rs1571849059
NM_201253.3(CRB1):c.862T>A (p.Cys288Ser) rs1571877872

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