ClinVar Miner

List of variants in gene SLC20A2 reported as uncertain significance for basal ganglia calcification, idiopathic, 1

Included ClinVar conditions (2):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001257180.2(SLC20A2):c.-89A>G rs185590768 0.00057
NM_001257180.2(SLC20A2):c.*482T>C rs558754799 0.00040
NM_001257180.2(SLC20A2):c.*409A>G rs190717111 0.00025
NM_001257180.2(SLC20A2):c.*798G>A rs767551448 0.00008
NM_001257180.2(SLC20A2):c.*1069G>C rs1010204441 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser) rs147025172 0.00005
NM_001257180.2(SLC20A2):c.*124G>T rs948433091 0.00003
NM_001257180.2(SLC20A2):c.*289A>C rs892436898 0.00003
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) rs761069656 0.00003
NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp) rs1268071663 0.00002
NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr) rs1034887212 0.00002
NM_001257180.2(SLC20A2):c.*539G>A rs1404962993 0.00001
NM_001257180.2(SLC20A2):c.*925G>T rs1466633393 0.00001
NM_001257180.2(SLC20A2):c.-264-4A>G rs1030242859 0.00001
NM_001257180.2(SLC20A2):c.1197C>T (p.His399=) rs767994782 0.00001
NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val) rs748282424 0.00001
NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala) rs1272921798 0.00001
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr) rs140978915 0.00001
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) rs1212922301 0.00001
NM_001257180.2(SLC20A2):c.*1320C>T rs963612970
NM_001257180.2(SLC20A2):c.*171G>A rs908206225
NM_001257180.2(SLC20A2):c.*538C>T rs746914329
NM_001257180.2(SLC20A2):c.*660T>C rs1211116059
NM_001257180.2(SLC20A2):c.*70C>T rs371247567
NM_001257180.2(SLC20A2):c.-181T>A rs780358007
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) rs748895007
NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)
NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn) rs920439006
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) rs1420760497
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val) rs200620922
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) rs188325552
NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala)
NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=) rs556568855
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) rs778920007
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) rs781554326
NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu) rs886041752

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