List of variants reported as not provided for congenital muscular dystrophy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 77

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G	rs148337125	0.01837
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	rs147077184	0.00338
NM_001849.4(COL6A2):c.1970-3C>A	rs201879417	0.00118
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	rs56035053	0.00098
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)	rs148038440	0.00066
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_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)	rs201988277	0.00033
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)	rs142264176	0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)	rs78427077	0.00026
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_013382.7(POMT2):c.148C>G (p.Arg50Gly)	rs550420394	0.00013
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg)	rs145516652	0.00012
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)	rs142593312	0.00011
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)	rs200698641	0.00008
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)	rs200108494	0.00008
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)	rs368349321	0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)	rs760572086	0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	rs753966526	0.00006
NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser)	rs754079735	0.00006
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_004393.6(DAG1):c.185C>T (p.Pro62Leu)	rs375938350	0.00005
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	rs201227573	0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	rs199534074	0.00004
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	rs200167715	0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)	rs532656197	0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)	rs541703064	0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)	rs1453508139	0.00002
NM_005198.5(CHKB):c.905A>T (p.Asp302Val)	rs775547378	0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln)	rs753030030	0.00002
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)	rs202247791	0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)	rs121913577	0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr)	rs761095619	0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	rs371505180	0.00001
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)	rs201542066	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_013382.7(POMT2):c.845G>A (p.Arg282His)	rs756132642	0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)	rs1201873802	0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	rs267607555	0.00001
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)	rs1278777348
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)	rs202247792
NM_001848.3(COL6A1):c.1002+6_1002+88del	rs1556425727
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001848.3(COL6A1):c.1056+5G>A	rs886044511
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	rs1439633596
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	rs535007570
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)	rs121912942
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)	rs111630733
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)	rs1482793424
NM_002206.3(ITGA7):c.671-285A>G	rs1873675449
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)	rs1574725167
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	rs2106349155
NM_004369.4(COL6A3):c.6210+1G>A	rs398124126
NM_004369.4(COL6A3):c.6210+5G>A	rs886044593
NM_004369.4(COL6A3):c.6354+1G>A	rs886042883
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)	rs750726658
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)	rs746250737
NM_004370.6(COL12A1):c.8319+1G>C	rs1768416586
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)	rs186690580
NM_032237.5(POMK):c.979G>C (p.Val327Leu)	rs546931054
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)	rs150325234
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)	rs121908155
NM_170707.4(LMNA):c.1380+1G>A	rs267607552
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)	rs1572366516
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	rs57629361
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)	rs61195471
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	rs267607609
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)	rs150415034

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