ClinVar Miner

List of variants studied for MRT32 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_003384.3(VRK1):c.*104A>G
NM_003384.3(VRK1):c.*107A>G rs375987917
NM_003384.3(VRK1):c.*171C>A
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*281G>A
NM_003384.3(VRK1):c.*302T>C
NM_003384.3(VRK1):c.*338A>G
NM_003384.3(VRK1):c.-11C>T
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064
NM_003384.3(VRK1):c.1069-9A>G rs767585930
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.161-14A>G
NM_003384.3(VRK1):c.161-3C>T
NM_003384.3(VRK1):c.374+11G>A
NM_003384.3(VRK1):c.375-8G>C rs191021502
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915

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