ClinVar Miner

List of variants studied for congenital myopathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter) rs193922887
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) rs1571892193
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) rs1571893383
NM_001164508.2(NEB):c.10872+1G>A rs1336053002
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs) rs1575024425
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.7956+1G>A rs2098919015
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) rs750990843
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) rs1695634838
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) rs984314526
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928

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