ClinVar Miner

List of variants studied for congenital myopathy by Pediatric Department, Peking University First Hospital

Included ClinVar conditions (289):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His) rs762061959 0.00004
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr) rs1165213387 0.00001
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys) rs1220780685 0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750 0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln) rs1319877486 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly) rs538497899
NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del) rs2145843330
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser) rs2145869414
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly) rs1974129338
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser) rs118192146
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His) rs2145912840
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.1675dup (p.Ile559fs) rs1475149579
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly) rs776252106
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro) rs1600706153
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe) rs1968540857
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn) rs1317036540
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter) rs1970064722
NM_000540.3(RYR1):c.7614+1G>A rs2145606794
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) rs1553255486
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs) rs2099076059
NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer) rs2093158866
NM_001267550.2(TTN):c.32312-1G>A rs2070649864
NM_003283.6(TNNT1):c.1A>G (p.Met1Val) rs2085575423
NM_003283.6(TNNT1):c.353del (p.Thr118fs) rs2085439767

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