ClinVar Miner

List of variants studied for familial hemiplegic migraine by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_000702.4(ATP1A2):c.1546T>G (p.Ser516Ala) rs778274408 0.00002
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) rs796052279
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser) rs2056735436
NM_001127222.2(CACNA1A):c.539+2387G>T
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506

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