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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)	rs56035053	0.00098
NM_000426.4(LAMA2):c.6268+5G>C	rs182064878	0.00066
NM_000426.4(LAMA2):c.6136G>A (p.Asp2046Asn)	rs201265215	0.00009
NM_000426.4(LAMA2):c.6187G>A (p.Asp2063Asn)	rs187633696	0.00002
NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys)	rs775825512	0.00001
NM_000426.4(LAMA2):c.6226G>A (p.Val2076Ile)	rs767444868	0.00001
NM_000426.4(LAMA2):c.6101T>C (p.Leu2034Pro)	rs764778065
NM_000426.4(LAMA2):c.6106G>A (p.Ala2036Thr)	rs1554297641
NM_000426.4(LAMA2):c.6131C>G (p.Ala2044Gly)	rs2114765475
NM_000426.4(LAMA2):c.6133A>G (p.Asn2045Asp)	rs886061053
NM_000426.4(LAMA2):c.6134A>G (p.Asn2045Ser)
NM_000426.4(LAMA2):c.6135C>G (p.Asn2045Lys)	rs756599307
NM_000426.4(LAMA2):c.6145A>G (p.Lys2049Glu)
NM_000426.4(LAMA2):c.6165T>G (p.Ile2055Met)
NM_000426.4(LAMA2):c.6185T>C (p.Leu2062Pro)
NM_000426.4(LAMA2):c.6191G>A (p.Gly2064Asp)
NM_000426.4(LAMA2):c.6193C>G (p.Leu2065Val)
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del)	rs758495000
NM_000426.4(LAMA2):c.6211A>C (p.Lys2071Gln)
NM_000426.4(LAMA2):c.6215T>C (p.Leu2072Pro)	rs757709716
NM_000426.4(LAMA2):c.6222C>G (p.Asp2074Glu)	rs2114765766
NM_000426.4(LAMA2):c.6224G>A (p.Ser2075Asn)
NM_000426.4(LAMA2):c.6235A>T (p.Thr2079Ser)
NM_000426.4(LAMA2):c.6259T>C (p.Ser2087Pro)
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr)	rs1299914386
NM_000426.4(LAMA2):c.6265A>G (p.Asn2089Asp)
NM_000426.4(LAMA2):c.6266_6267insGGATCTTACTTCCAAAAG (p.Asn2089delinsLysAspLeuThrSerLysSer)	rs2114765909

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