ClinVar Miner

List of variants reported as likely benign for Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_001458.5(FLNC):c.1026C>T (p.Pro342=) rs200633995 0.00023
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=) rs773767211 0.00008
NM_001458.5(FLNC):c.651C>T (p.Asn217=) rs370425863 0.00006
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=) rs547733871 0.00004
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=) rs955205184 0.00002
NM_001458.5(FLNC):c.2307G>A (p.Val769=) rs906089015 0.00001
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=) rs200405579 0.00001
NM_001458.5(FLNC):c.5842+12G>A rs745604311 0.00001
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=) rs761006044 0.00001
NM_001458.5(FLNC):c.2008-6G>A rs577813339
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) rs1585168080
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) rs2128940705

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