ClinVar Miner

List of variants in gene RMRP reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NR_003051.4(RMRP):n.240C>T rs749667892 0.00016
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NC_000009.12:g.35658004C>T rs902313238
NC_000009.12:g.35658018_35658034dup rs878853178
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NC_000009.12:g.35658028_35658029insGCTCAG rs1554651446
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.113_114insACGTAGACATTCCT rs1823615821
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.92_93delAGinsGC rs387906533
NR_003051.4(RMRP):n.97_98dup rs1340624774
RMRP, 1-BP DEL/21-BP INS, PROMOTER

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