ClinVar Miner

List of variants in gene combination LOC129935417, TMEM237 reported as uncertain significance for Joubert syndrome and related disorders

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.-61G>A rs571550977 0.00009
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp) rs972949531 0.00003
NM_001044385.3(TMEM237):c.-59G>A rs886055449 0.00001
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu) rs562984785
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln) rs778373105
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln) rs2105906100
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys) rs1319201699
NM_001044385.3(TMEM237):c.32A>C (p.Glu11Ala)
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)

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