ClinVar Miner

List of variants in gene HMCN1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr) rs138190200 0.00081
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00050
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) rs41317503 0.00028
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281 0.00024
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) rs752255369 0.00003
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) rs766387783 0.00003
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln) rs144772706 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.3153C>T (p.Cys1051=)
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6607C>T (p.Leu2203Phe) rs1397176102
NM_031935.3(HMCN1):c.7426+8T>C
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
NM_031935.3(HMCN1):c.9186C>T (p.Asp3062=)
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=)

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