ClinVar Miner

List of variants in gene LOC126859838, SYNE1 studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (4):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser) rs148242740 0.00035
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) rs375079396 0.00029
NM_182961.4(SYNE1):c.8550C>T (p.His2850=) rs140565986 0.00024
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=) rs139079964 0.00019
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_182961.4(SYNE1):c.8488-15T>G rs754541640 0.00006
NM_182961.4(SYNE1):c.8652+14C>T rs761672973 0.00006
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr) rs371025400 0.00003
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=) rs757737346 0.00002
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=) rs143105336 0.00002
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) rs794727764 0.00001
NM_182961.4(SYNE1):c.8571T>C (p.His2857=) rs886061207 0.00001
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp) rs757720748 0.00001
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=) rs759736838 0.00001
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=) rs146288148 0.00001
NM_182961.4(SYNE1):c.8488-15T>C rs754541640
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys) rs577620830
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=) rs2154124074
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=) rs2154124018
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly) rs757720748
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe) rs2097516831
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) rs2097516516
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
NM_182961.4(SYNE1):c.8652+3C>T
NM_182961.4(SYNE1):c.8652+9A>T

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