ClinVar Miner

List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2B by Natera, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001130987.2(DYSF):c.4756-3C>T rs371227553 0.00153
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00098
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061 0.00087
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00076
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His) rs2303603 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00043
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=) rs146498307 0.00031
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765 0.00024
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=) rs137855767 0.00018
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816 0.00014
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00014
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=) rs149979662 0.00009
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001130987.2(DYSF):c.1449+3G>A rs764771218 0.00008
NM_001130987.2(DYSF):c.4464+7T>C rs369949055 0.00008
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=) rs781758050 0.00006
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.4821C>T (p.His1607=) rs771742780 0.00005
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=) rs374809515 0.00004
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=) rs375483537 0.00004
NM_001130987.2(DYSF):c.126C>T (p.Ser42=) rs369755508 0.00003
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=) rs371231895 0.00003
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=) rs773468156 0.00002
NM_001130987.2(DYSF):c.249G>C (p.Gly83=) rs550993602 0.00002
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=) rs201966225 0.00002
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=) rs762447573 0.00002
NM_001130987.2(DYSF):c.6322-10C>G rs755660226 0.00002
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001130987.2(DYSF):c.297C>T (p.Ser99=) rs763710844 0.00001
NM_001130987.2(DYSF):c.312C>G (p.Ala104=) rs750834799 0.00001
NM_001130987.2(DYSF):c.315C>T (p.Pro105=) rs1203731908 0.00001
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=) rs2094956948 0.00001
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=) rs1573061003 0.00001
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=) rs759536240 0.00001
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00001
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=) rs780923865 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=) rs1308247360 0.00001
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=) rs539234900 0.00001
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=) rs754852745 0.00001
NM_001130987.2(DYSF):c.693G>A (p.Gly231=) rs775544808 0.00001
NM_001130987.2(DYSF):c.960C>T (p.Asp320=) rs771325384 0.00001
NM_003494.4(DYSF):c.27C>G (p.Ala9=) rs771520271 0.00001
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=) rs138317526
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.408C>T (p.Pro136=) rs1182440042
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=) rs1476328093
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=) rs963646326
NM_001130987.2(DYSF):c.5174+8G>A rs1573054048
NM_001130987.2(DYSF):c.852G>A (p.Thr284=) rs1454893867

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