ClinVar Miner

List of variants studied for inborn disorder of cobalamin metabolism and transport by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter) rs771755125
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139

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