List of variants in gene RMRP reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00015
NR_003051.3(RMRP):n.-22_-13dup	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.35658021GTCCTCAGCTTC[3]	rs1554651400
NR_003051.3(RMRP):n.-14_3dup	rs878853178
NR_003051.3(RMRP):n.-19_-3dup	rs727502778
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC	rs1554651469
NR_003051.3(RMRP):n.-24_-10dup	rs727502776
NR_003051.3(RMRP):n.-6_-5insCCTGAG	rs1554651446
NR_003051.4(RMRP):n.113_114insACGTAGACATTCCT	rs1823615821
NR_003051.4(RMRP):n.156G>T	rs752709977
NR_003051.4(RMRP):n.16G>A	rs902313238
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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