ClinVar Miner

List of variants studied for autosomal recessive centronuclear myopathy by Revvity Omics, Revvity

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00064
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00038
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00037
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00026
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00022
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00022
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile) rs528226744 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu) rs368238742 0.00007
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00005
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00005
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp) rs762000831 0.00003
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp) rs767159511 0.00003
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly) rs781062591 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn) rs1319052723 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg) rs201454314 0.00001
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile) rs760680333 0.00001
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly) rs1451744479 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys) rs533933963 0.00001
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu) rs746620548 0.00001
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met) rs750715069 0.00001
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg) rs772939462 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu) rs375004668 0.00001
NM_139343.3(BIN1):c.376A>G (p.Met126Val) rs1258696983 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser) rs1416231983 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe) rs764752262 0.00001
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg) rs1365650391
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4362G>T (p.Val1454=) rs1326623898
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro) rs995692614
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs) rs2545945941
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del) rs1274718760
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu) rs749373078
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr) rs2545997866
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser) rs1468339574
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly) rs2546024033
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp) rs2467183615
NM_139343.3(BIN1):c.1620G>T (p.Gln540His) rs561244491
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg) rs2467423343

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