ClinVar Miner

List of variants studied for homocystinuria by Mendelics

Included ClinVar conditions (21):
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Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854

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