List of variants in gene RMRP reported as likely pathogenic for autosomal recessive disease

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: 107

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HGVS	dbSNP	gnomAD frequency
NR_003051.4(RMRP):n.6C>T	rs772443941	0.00016
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00015
NR_003051.4(RMRP):n.244A>G	rs551450545	0.00010
NR_003051.3(RMRP):n.-22_-13dup	rs1554651507	0.00007
NR_003051.4(RMRP):n.37C>T	rs549085067	0.00006
NR_003051.3(RMRP):n.-19_-13dup	rs1554651506	0.00005
NR_003051.3(RMRP):n.-25_-3dup	rs1554651413	0.00004
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.3(RMRP):n.-14_-2dup13	rs1554651400	0.00003
NR_003051.3(RMRP):n.-20_1dup	rs1563907710	0.00003
NR_003051.3(RMRP):n.-22_-6dup	rs727502777	0.00002
NR_003051.3(RMRP):n.-24_-12dup	rs781730798	0.00002
NR_003051.3(RMRP):n.-13_-7dup7	rs1554651462	0.00001
NR_003051.3(RMRP):n.-16_-4dup	rs1554651422	0.00001
NR_003051.3(RMRP):n.-19_-12dup8	rs1554651505	0.00001
NR_003051.3(RMRP):n.-20_-2dup	rs1554651404	0.00001
NR_003051.3(RMRP):n.-20_-8dup	rs1823640657	0.00001
NR_003051.3(RMRP):n.-21_-2dup	rs1554651403	0.00001
NR_003051.3(RMRP):n.-22_-14dup	rs1563908167	0.00001
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT	rs1563908212	0.00001
NR_003051.3(RMRP):n.-22_-4dup	rs1554651427	0.00001
NR_003051.3(RMRP):n.-23_-10dup	rs1554651489	0.00001
NR_003051.3(RMRP):n.-23_-5dup19	rs1554651428	0.00001
NR_003051.3(RMRP):n.-23_-6dup	rs1554651453	0.00001
NR_003051.3(RMRP):n.-25_-8dup18	rs1554651473	0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG	rs1554651381	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
NR_003051.4(RMRP):n.42G>A	rs1156413585	0.00001
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]	rs1563907859
NC_000009.12:g.35658022_35658032dup	rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]	rs727502778
NC_000009.12:g.35658023_35658038dup	rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA	rs2131809783
NC_000009.12:g.35658025_35658039dup	rs1823639713
NC_000009.12:g.35658026_35658032dup	rs2131809964
NC_000009.12:g.35658026_35658037dup	rs2131809978
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC	rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC	rs1554651486
NR_003051.3(RMRP):n.-11_-2dup10	rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA	rs1554651425
NR_003051.3(RMRP):n.-13_-2dup	rs1554651400
NR_003051.3(RMRP):n.-13_-4dup10	rs1554651424
NR_003051.3(RMRP):n.-13_-6dup	rs1563907946
NR_003051.3(RMRP):n.-15_-6dup	rs1554651447
NR_003051.3(RMRP):n.-15_-8dup	rs1230629953
NR_003051.3(RMRP):n.-17_-3dup15	rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13	rs1823637491
NR_003051.3(RMRP):n.-18_-17ins14	rs1554651544
NR_003051.3(RMRP):n.-18_-1dup	rs1554651396
NR_003051.3(RMRP):n.-18_-2dup17	rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12	rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11	rs1230629953
NR_003051.3(RMRP):n.-18_-9dup10	rs1554651481
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC	rs1823648167
NR_003051.3(RMRP):n.-19_-5dup	rs1823637565
NR_003051.3(RMRP):n.-19_1dup20	rs1554651382
NR_003051.3(RMRP):n.-1_1ins16	rs1554651395
NR_003051.3(RMRP):n.-1_1ins21	rs1218494857
NR_003051.3(RMRP):n.-1_1ins22	rs1554651397
NR_003051.3(RMRP):n.-20_-10dup	rs1554651486
NR_003051.3(RMRP):n.-20_-12dup	rs1554651503
NR_003051.3(RMRP):n.-20_-13dup	rs1554651512
NR_003051.3(RMRP):n.-20_-19insTCTGTGAAGCTGGGGAC	rs1554651469
NR_003051.3(RMRP):n.-20_-3dup	rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14	rs1823639713
NR_003051.3(RMRP):n.-21_-12dup10	rs1554651503
NR_003051.3(RMRP):n.-21_-4dup	rs1563907881
NR_003051.3(RMRP):n.-21_-6dup16	rs1554651451
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT	rs751921616
NR_003051.3(RMRP):n.-22_-11dup	rs1179735603
NR_003051.3(RMRP):n.-22_-3dup	rs1554651411
NR_003051.3(RMRP):n.-23_-13dup	rs1554651513
NR_003051.3(RMRP):n.-23_-14dup10	rs1554651524
NR_003051.3(RMRP):n.-23_-7dup17	rs920074067
NR_003051.3(RMRP):n.-24_-10dup	rs727502776
NR_003051.3(RMRP):n.-24_-15dup10	rs1554651532
NR_003051.3(RMRP):n.-24_-18dup	rs1554651543
NR_003051.3(RMRP):n.-24_-3dup22	rs1554651411
NR_003051.3(RMRP):n.-24_-4dup	rs1563907883
NR_003051.3(RMRP):n.-25_-12dup	rs1554651499
NR_003051.3(RMRP):n.-25_-13dup	rs1554651508
NR_003051.3(RMRP):n.-25_-14dup12	rs1554651526
NR_003051.3(RMRP):n.-25_-6dup	rs1554651445
NR_003051.3(RMRP):n.-26_-10dup	rs1554651491
NR_003051.3(RMRP):n.-27_-6dup22	rs1823638952
NR_003051.3(RMRP):n.-3_-2ins20	rs1554651405
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG	rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA	rs1554651439
NR_003051.3(RMRP):n.-7_-6ins16	rs1554651461
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA	rs1823639598
NR_003051.3(RMRP):n.-7_1dup	rs752934195
NR_003051.3(RMRP):n.-7_2dup9	rs1554651365
NR_003051.3(RMRP):n.-8_-7ins15	rs1230629953
NR_003051.3(RMRP):n.-8_-7ins20	rs1554651471
NR_003051.3(RMRP):n.-9_1dup	rs752934195
NR_003051.3(RMRP):n.147G>A	rs753874439
NR_003051.3(RMRP):n.1_2ins13	rs1554651368
NR_003051.3(RMRP):n.2_3ins15	rs1554651364
NR_003051.3(RMRP):n.3_4ins10	rs759665242
NR_003051.4(RMRP):n.129G>A	rs74810894
NR_003051.4(RMRP):n.184G>T	rs1554651153
NR_003051.4(RMRP):n.213C>G	rs192060920
NR_003051.4(RMRP):n.220A>G	rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG	rs1383432106
NR_003051.4(RMRP):n.97_98dup	rs1340624774

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