ClinVar Miner

List of variants in gene combination LAMA2, LOC123864065 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176 0.00026
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199 0.00011
NM_000426.4(LAMA2):c.6219A>T (p.Ala2073=) rs750526928 0.00008
NM_000426.4(LAMA2):c.6236C>T (p.Thr2079Met) rs200928844 0.00004
NM_000426.4(LAMA2):c.6228C>T (p.Val2076=) rs138994246 0.00003
NM_000426.4(LAMA2):c.6177C>T (p.His2059=) rs766076921 0.00002
NM_000426.4(LAMA2):c.6225C>T (p.Ser2075=) rs758692038 0.00002
NM_000426.4(LAMA2):c.6086-18A>T rs1412517666 0.00001
NM_000426.4(LAMA2):c.6138C>T (p.Asp2046=) rs551256564 0.00001
NM_000426.4(LAMA2):c.6168A>G (p.Thr2056=) rs1386248630 0.00001
NM_000426.4(LAMA2):c.6183C>T (p.Asn2061=) rs775825512 0.00001
NM_000426.4(LAMA2):c.6246G>A (p.Val2082=) rs759208547 0.00001
NM_000426.4(LAMA2):c.6086-10C>G rs2114765340
NM_000426.4(LAMA2):c.6086-19T>A rs2114765313
NM_000426.4(LAMA2):c.6086-20A>C
NM_000426.4(LAMA2):c.6086-20A>G
NM_000426.4(LAMA2):c.6086-4A>C rs775432306
NM_000426.4(LAMA2):c.6086-4A>G rs775432306
NM_000426.4(LAMA2):c.6086-7C>A
NM_000426.4(LAMA2):c.6090A>C (p.Thr2030=)
NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr) rs776279074
NM_000426.4(LAMA2):c.6096T>C (p.Ala2032=)
NM_000426.4(LAMA2):c.6111T>G (p.Val2037=)
NM_000426.4(LAMA2):c.6114G>A (p.Lys2038=)
NM_000426.4(LAMA2):c.6135C>T (p.Asn2045=) rs756599307
NM_000426.4(LAMA2):c.6144T>C (p.Ala2048=) rs772199603
NM_000426.4(LAMA2):c.6154C>T (p.Leu2052=)
NM_000426.4(LAMA2):c.6159A>T (p.Ala2053=) rs1782074541
NM_000426.4(LAMA2):c.6175C>T (p.His2059Tyr)
NM_000426.4(LAMA2):c.6180G>A (p.Gln2060=) rs777476613
NM_000426.4(LAMA2):c.6186C>G (p.Leu2062=)
NM_000426.4(LAMA2):c.6186C>T (p.Leu2062=) rs975864468
NM_000426.4(LAMA2):c.6189T>C (p.Asp2063=) rs2114765675
NM_000426.4(LAMA2):c.6193C>T (p.Leu2065=) rs1238518853
NM_000426.4(LAMA2):c.6213A>G (p.Lys2071=)
NM_000426.4(LAMA2):c.6216A>G (p.Leu2072=) rs2114765745
NM_000426.4(LAMA2):c.6228C>G (p.Val2076=)
NM_000426.4(LAMA2):c.6231C>G (p.Ala2077=)
NM_000426.4(LAMA2):c.6240T>C (p.Asn2080=)
NM_000426.4(LAMA2):c.6244G>A (p.Val2082Met)
NM_000426.4(LAMA2):c.6255T>C (p.Asp2085=) rs1478754844
NM_000426.4(LAMA2):c.6268+12T>C
NM_000426.4(LAMA2):c.6268+12T>G
NM_000426.4(LAMA2):c.6268+17C>A
NM_000426.4(LAMA2):c.6268+18A>G
NM_000426.4(LAMA2):c.6268+19T>C
NM_000426.4(LAMA2):c.6268+20T>C
NM_000426.4(LAMA2):c.6268+8C>T

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