ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263 0.00012
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_017668.3(NDE1):c.948-40C>T rs142707175 0.00011
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) rs778350253 0.00002
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.948-7058C>A rs529718944

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