ClinVar Miner

List of variants in gene RS1 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.150G>T (p.Trp50Cys) rs200866925 0.00011
NC_000023.11:g.(18656759_18657639)_(18672069_?)del
NC_000023.11:g.(18657652_18672110)_(18672110_?)del
NC_000023.11:g.(18657666_18672016)_(18672069_?)del
NC_000023.11:g.(?_18641623)_(18641623_18644.669)del
NM_000330.4(RS1):c.120C>A (p.Cys40Ter) rs62645885
NM_000330.4(RS1):c.124del (p.Cys42fs)
NM_000330.4(RS1):c.175T>A (p.Cys59Ser) rs62645889
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) rs1928220547
NM_000330.4(RS1):c.183_184+12del
NM_000330.4(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.4(RS1):c.3G>A (p.Met1Ile) rs1928500368
NM_000330.4(RS1):c.97del (p.Trp33fs)
NM_000330.4:c.(184+1_185-1)_(522+1_523-1)del
NM_000330.4:c.(52+1_53-1)_(184+1_185-1)del
NM_000330.4:c.(78+1_79-1)_(184+1_185-1)del

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