ClinVar Miner

List of variants in gene LARGE1 reported as benign for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.893-17C>G rs139572378 0.00102
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) rs116734942 0.00081
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.897G>C (p.Val299=) rs532067255
NM_133642.5(LARGE1):c.924G>A (p.Arg308=) rs528836583

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