ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.-6G>C rs183719210 0.00123
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.558C>T (p.Gly186=) rs139019399 0.00007
NM_000254.3(MTR):c.1291T>G (p.Phe431Val) rs772174532 0.00003
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) rs989945025 0.00001
NM_000254.3(MTR):c.1941dup (p.Arg648fs)
NM_000254.3(MTR):c.2135T>C (p.Leu712Pro) rs2103301603
NM_000254.3(MTR):c.2733A>G (p.Glu911=)
NM_000254.3(MTR):c.2929C>T (p.Pro977Ser)
NM_000254.3(MTR):c.3283G>A (p.Asp1095Asn)
NM_000254.3(MTR):c.3534C>T (p.Pro1178=)
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.920dup (p.His307fs)

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