ClinVar Miner

List of variants in gene RS1 reported as not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000330.3(RS1):c.120C>A (p.Cys40Ter) rs62645885
NM_000330.3(RS1):c.160_163dup (p.Thr55fs) rs281865342
NM_000330.3(RS1):c.163del (p.Thr55fs) rs62645886
NM_000330.3(RS1):c.175T>A (p.Cys59Ser) rs62645889
NM_000330.3(RS1):c.184+1G>C rs281865343
NM_000330.3(RS1):c.1A>G (p.Met1Val) rs281865332
NM_000330.3(RS1):c.2T>C (p.Met1Thr) rs281865333
NM_000330.3(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.3(RS1):c.35T>A (p.Leu12His) rs62645879
NM_000330.3(RS1):c.38T>C (p.Leu13Pro) rs104894935
NM_000330.3(RS1):c.52+1G>A rs281865336
NM_000330.3(RS1):c.52+1G>T rs281865336
NM_000330.3(RS1):c.52+2T>C rs281865334
NM_000330.3(RS1):c.52+2dup rs281865337
NM_000330.3(RS1):c.52+5G>C rs281865338
NM_000330.3(RS1):c.53_77del (p.Ala18fs) rs281865339
NM_000330.3(RS1):c.68C>A (p.Ser23Ter) rs62645882
NM_000330.3(RS1):c.76G>T (p.Glu26Ter) rs140983930
NM_000330.3(RS1):c.78+1G>A rs281865341
NM_000330.3(RS1):c.79-2A>G rs281865340

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