ClinVar Miner

List of variants studied for centronuclear myopathy by Baylor Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) rs199549168 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) rs753402698 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) rs2040150416
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys) rs1568304333
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) rs2068817566
NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter) rs754777692
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995

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