ClinVar Miner

List of variants reported as not provided for hereditary skeletal muscle disorder by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001130987.2(DYSF):c.2402C>T (p.Ala801Val) rs147139414 0.00059
NM_001130987.2(DYSF):c.794C>T (p.Pro265Leu) rs143053635 0.00054
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277 0.00033
NM_032608.7(MYO18B):c.5047G>A (p.Val1683Ile) rs200295571 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408 0.00018
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_032790.4(ORAI1):c.763G>A (p.Val255Ile) rs376286032 0.00014
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg) rs145516652 0.00012
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His) rs151106439 0.00011
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) rs782544250 0.00010
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met) rs200108494 0.00008
NM_005476.7(GNE):c.1651A>G (p.Ile551Val) rs754313408 0.00008
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000540.3(RYR1):c.6891+3G>T rs373333757 0.00006
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr) rs757006805 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) rs375938350 0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_004168.4(SDHA):c.313-7T>C rs201972549 0.00004
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met) rs1236057233 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys) rs941573844 0.00003
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) rs754079735 0.00003
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) rs368873021 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr) rs763360938 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln) rs552938001 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_201384.3(PLEC):c.1970G>A (p.Ser657Asn) rs782591543 0.00002
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr) rs761095619 0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) rs780941330 0.00001
NM_004320.6(ATP2A1):c.844C>T (p.Pro282Ser) rs746961249 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) rs1465193578 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_201384.3(PLEC):c.12022G>A (p.Glu4008Lys) rs541833704 0.00001
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) rs1734890180
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.8319+1G>C rs1768416586
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054
NM_032608.7(MYO18B):c.5915T>C (p.Ile1972Thr) rs2146631078
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652
NM_201384.3(PLEC):c.10339C>T (p.Leu3447Phe)
NM_201384.3(PLEC):c.5932GAG[2] (p.Glu1980del) rs781811075
NM_201384.3(PLEC):c.6797T>C (p.Leu2266Pro) rs1586877407
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172

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