ClinVar Miner

List of variants studied for perceptual disorders by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00009
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1761-2A>G rs754765164 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_000260.4(MYO7A):c.5169-6C>A
NM_000330.4(RS1):c.52+3A>G rs2147209764
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter) rs2101069632
NM_000350.3(ABCA4):c.2653+2del rs766646086
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_001142800.2(EYS):c.9368del (p.Asn3123fs) rs1768339358
NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)
NM_001145809.2(MYH14):c.2300G>A (p.Arg767His) rs2123341583
NM_001146079.2(CLDN14):c.664del (p.Ala222fs) rs761918152
NM_001242957.3(MAK):c.1930T>C (p.Tyr644His) rs1581624496
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004183.4(BEST1):c.949G>T (p.Val317Leu) rs121918287
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs) rs2129316420
NM_033629.6(TREX1):c.814del (p.Asp272fs) rs2107265386
NM_178857.6(RP1L1):c.2380G>T (p.Glu794Ter) rs267601690
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) rs2148027757

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