ClinVar Miner

List of variants studied for Usher syndrome type 1 by Pars Genome Lab

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633

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