ClinVar Miner

List of variants in gene LOC130000303, SLC20A2, SMIM19 studied for basal ganglia calcification, idiopathic, 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001135674.2(SMIM19):c.-517C>T rs2923444 0.68776
NM_001135674.2(SMIM19):c.-433C>T rs574357175 0.00051
NM_001135674.2(SMIM19):c.-450A>G rs997866933 0.00011
NM_001135674.2(SMIM19):c.-411G>A rs886574926 0.00007
NM_001135674.2(SMIM19):c.-407C>T rs879904962 0.00005
NM_001135674.2(SMIM19):c.-386G>A rs969584653 0.00004
NM_001135674.2(SMIM19):c.-456A>C rs1335860382 0.00001
NM_001135674.2(SMIM19):c.-543G>A rs1813220345 0.00001
NM_001135674.2(SMIM19):c.-412G>A rs1813237071
NM_001135674.2(SMIM19):c.-472A>C rs1813229018
NM_001135674.2(SMIM19):c.-534C>G rs1554579510
NM_001135674.2(SMIM19):c.-560dup rs1554579488
NM_001135674.2(SMIM19):c.-564dup rs1554579481

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