ClinVar Miner

List of variants reported as pathogenic for congenital myopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (280):
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ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter) rs753585568 0.00002
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs) rs1460246826
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) rs1568510406
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001135254.2(PAX7):c.86-1G>A rs1570098248
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128

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