ClinVar Miner

List of variants in gene MYO6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.1767A>G (p.Glu589=) rs547890149 0.00008
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 0.00006
NM_004999.4(MYO6):c.3823dup (p.Tyr1275fs) rs746038889 0.00001
NM_004999.4(MYO6):c.679C>T (p.His227Tyr) rs930430931 0.00001
GRCh37/hg19 6q14.1(chr6:76545618-76545673)x1
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter) rs2149312917
NM_004999.4(MYO6):c.1921A>G (p.Ile641Val) rs1554213104
NM_004999.4(MYO6):c.2287-6_2287-5insTAG rs2149347409
NM_004999.4(MYO6):c.2863C>T (p.Arg955Trp)
NM_004999.4(MYO6):c.286G>A (p.Ala96Thr) rs777778726
NM_004999.4(MYO6):c.542G>A (p.Arg181Lys)

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