ClinVar Miner

List of variants studied for maturity-onset diabetes of the young by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser) rs375390710 0.00004
NM_000162.5(GCK):c.255G>T (p.Arg85Ser) rs1554335758
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) rs1554334872
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) rs1555833144
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs) rs1555212747
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn) rs1554404073
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693

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