ClinVar Miner

List of variants in gene MTM1 reported by Ambry Genetics

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.154A>G (p.Ile52Val)
NM_000252.3(MTM1):c.1586G>A (p.Arg529His)
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1783A>G (p.Met595Val)
NM_000252.3(MTM1):c.294C>T (p.Gly98=)

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